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The inheritance of type I von Willebrand's disease is thought to be autosomally dominant. The laboratory profile may, however, vary between affected people, even within a single family. There is also a large variation in the severity of clinical symptoms. To see if there is an association between the von Willebrand factor genotype, the laboratory profile, and the severity of the clinical symptoms we did a genetic analysis of four families with type I von Willebrand's disease. The proband of each family proved to be a compound heterozygote for defects in the von Willebrand factor gene. Simple heterozygotes in these families were either symptomless or only mildly affected. One of the identified mutations, which was shared by the probands of three of the four families, may have a carrier prevalence of 1:50 in the general population. These results suggest that the inheritance of von Willebrand's disease is often recessive rather than dominant and so have important implications for diagnosis and genetic counselling.

The Lancet (British edition), 1993-04, Vol.341 (8851), p.982-986

Recessive inheritance of von Willebrand's disease type I

A Abraham, A., 28 Acharya, M.M., 93 Adem, S., 1389, 1401 Adler, K.B., 786 Afram, G., 1190 Agu, E., 686 Aguilar‐González, A., 674 Ahuja, C.S., 1509 Ahuja, S., 221 Al‐Aama, J., 1585 Alayli, Y., 221 Alba‐Amador, J., 1085 Alex, A., 1353 Alexander, P.G., 1631 Algaba‐Chueca, F., 351 Allan, D.S., 39, 1344 Alli, C., 106 Alonso‐Gregorio, S., 1500 Alvarez Jr, R., 620 Anderson, P., 636 André, H., 936 Andreadis, S.T., 328 André‐Lévigne, D., 131 Angulo, M.C., 93 Antonyan, L., 697 Aoki, I., 465 Aonuma, T., 120 Aouabed, Z., 697 Argiropoulos, B., 1036 Armstrong, L., 1585 Arnett, G.W., 377 Aronsson, M., 936 Arrell, D.K., 74 Atala, A., 4, 61, 80 Atkinson, S.P., 1, 145, 285, 417, 543, 651, 725, 817, 955, 1115, 1273, 1477 Augustine, S., 158 Averyanov, A., 6 Avey, M.T., 158 Avogaro, A., 965 Ayllón, V., 636 Azuma, N., 120 B Badhiwala, J.H., 1509 Badyra, B., 1174 Bagood, M.D., 1353 Baixauli, J., 295 Bajetto, A., 1310 Baklaushev, V., 6 Ballen, K.K., 1153 Ballesteros, M., 351 Banfi, A., 433 Baquié, M., 131 Baraniak, P., 728 Barbieri, F., 1310 Barrett, I., 47 Bartuma, H., 936 Bartunek, J., 74 Basuli, F., 1203 Bauer, J., 882 Bauer, K., 1331 Baulch, J.E., 93 Bedi, R., 728 Behfar, A., 74 Bell, S., 697 Beltsios, E., 1558 Benabdellah, K., 674 Bengzon, J., 1365 Bensoussan, D., 1488 Bhat, K., 106 Bi, J.‐J., 273 Bitar, K.N., 713 Blackshear, C., 1389 Blanco, M.F., 1085 Blinova, K., 1203 Boberg, E., 1190 Bobkov, I., 17 Bocheux, R., 917 Boehm, M., 1203 Boers, J., 478 Boers, R., 478 Boissonade, F.M., 1462 Bolander, J., 389 Bonassi Signoroni, P., 1023 Bononi, I., 377 Bonora, B.M., 965 Bonsack, B., 203 Borderie, M., 917 Borderie, V.M., 917 Bordt, A.S., 903 Borghi, A., 1651 Borlongan, C.V., 203 Borrelli, M.R., 1389, 1401 Borys, B.S., 1036 Bosch, Ramón, 351 Bravo, E., 1500 Bresciani, E., 1068 Broderick, K., 1617 Bronner, M.E., 328 Bruttocao, A., 965 Bu, G., 1007 Buffelli, M., 1068 Bulbarelli, A., 1068 Bulstrode, N.W., 1651 Burger, D., 39 Burger, M.G., 433 Buskin, A., 734 C Caccin, P., 1233 Cai, H., 364 Callard, P., 917 Campos‐Cuerva, R., 1085 Can, A., 1287 Cao, J., 1218 Cao, L., 773, 1218 Cao, N., 1121 Cap, A.P., 491 Caplan, A.I., 1007 Caplan, H.W., 903 Cappellari, R., 965 Cara, F.E., 636 Caras, I.W., 821 Cargnoni, A., 1023 Carman, A.J., 1378 Carmeliet, P., 758 Carmona‐Sáez, P., 636 Carrillo, L., 903 Carrillo‐Gálvez, A.B., 636 Casiraghi, F., 427 Castro, A.R., 342 Castro, L.L., 250 Cerniauskas, E., 1585 Cesari, V., 1023 Chaklader, M., 389 Chan, M.L., 158 Chang, E.Y., 1401 Chang, J., 1604 Chase, T.N., 203 Chédotal, A., 917 Chen, F.‐M., 1414 Chen, J., 1053, 1257, 1448 Chen, M., 603 Chen, S., 1604 Chen, S.‐J., 273 Chen, S.‐Y., 499 Chen, Y., 773, 1053, 1218, 1604 Chen, Y.‐L., 827 Cheng, B.‐C., 827 Cheng, B.‐F., 273 Cheng, F., 106, 1604 Cheng, K., 786 Cheng, N.‐C., 518 Cheng, T., 1604 Cheng, W., 158 Cheng, Y., 518 Chiamvimonvat, N., 1570 Chigbrow, M., 1353 Chiu, I.‐M., 499 Chiu, J., 403 Chmielewski, N.N., 93 Cho, A.R., 839 Choong, P.F.M., 302 Chow, L., 235 Choyke, P.L., 1203 Chu, Y., 1218 Ciacci, J., 177 Clouse, C., 80 Coats, A.B., 203 Coco, S., 1068 Collins, L.R., 1129 Colomb, E., 1102 Colter, J., 1036 Concepcion, W., 850 Conroy, K., 686 Cores, J., 786 Corey, S., 203 Corral, A., 221 Corrigan, M., 1431 Cortez‐Toledo, E., 686 Cortijo‐Gutierrez, M., 674 Cortinovis, M., 427 Corydon, T.J., 882 Coskun, H., 1287 Cotton, B.A., 491 Cox Jr, C.S., 491, 903 Coy, J., 235 Crawford, S.E., 734 Cruz, F.F., 250, 1244 Cui, M., 1233 Curry, E.L., 734 D Dadhich, P., 713 D'Agostino, A., 377 D'Agostino, C., 1068 Dahl, J.J., 850 D'Amico, G., 1068 Dander, E., 1068 Dang, T., 1036 Danilevskaya, O., 6 Dartt, D.A., 316 Dasu, M.R., 1353 Dawson, G., 1137 De Coppi, P., 1233 de Haro‐Carrillo, M., 636 de Klein, A., 478 de Koning, R., 758 de la Portilla, F., 295 Del Priore, L.V., 364 Dellacasagrande, I., 1310 Dellsén, A., 47 Demirci, S., 590, 1549 Deng, L., 603 Deng, Z., 661 Di Bella, C., 302 Di Maggio, N., 433 Diaz Deleon, N.M., 1389, 1401 Diez Sebastian, J., 1500 Ding, L., 261, 661 Dinh, Phuong‐Uyen 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Fujibayashi, Y., 465 G Galindo‐Moreno, P., 636, 674 Gallegos, A., 1353 Ganaga, S., 1570 Gao, K., 686 Gao, Y., 1604 Gao, Y.‐X., 273 Garberich, R.F., 1147 Garcia Duran, A., 1558 Garcia‐Arranz, M., 295, 1500 Garcia‐Garcia, J., 295 Garcia‐Olmo, D., 295, 1500 Gardner, O.F.W., 1651 Gardner, S., 746 Garming Legert, K., 1190 Gaspari, F., 427 Gaughan, L., 734 George, M.J., 491 Geris, L., 389 Gerli, M.F.M., 1233 Ghareeb, A.E., 1531 Ghazvini, M., 478 Ghoubay, D., 917 Gianni‐Barrera, R., 433 Gibot, S., 1488 Giedzinski, E., 93 Gielen, K., 728 Giera, M., 758 Gilbert, E.A., 1509 Gill, B.S., 491 Giorgetti, A., 1085 Giorgi, C., 377 Giuranno, L., 799 Gklava, C., 389 Glenn, T., 177 Gálvez‐Peisl, S., 636 Gong, J., 364 González‐Correa, J.E., 636 González‐Muñoz, E., 1085 Gotti, E., 427 Gracia‐Solana, J., 295 Granados‐Principal, S., 636 Grasso, M., 965 Gratton, A., 697 Greber, B., 47 Gribnau, J.H., 478 Grieve, K., 917 Grimm, D., 882 Gürke, L., 433 Grønning Hansen, M., 1365 Groot, A.J., 799 Grumet, M., 17 Götherström, C., 148 Guadalajara, H., 295 Guarque, A., 351 Guedes, H.L.M., 250 Gunson, M.J., 377 Gupta, A., 554 Gutierrez‐Guerrero, A., 674 Gutiérrez, C., 351 H Hadjisavas, M., 728 Haigney, M., 1203 Halekoh, U., 189 Hallam, D., 1585 Hammock, B.D., 1570 Han, D., 661 Han, Y., 661 Hansen, C., 728 Hare, J.M., 1007 Harman, R.M., 746 Haro‐Mora, J.J., 590 Harris, C., 1585 Hasebe, N., 120 Hashimura, Y., 1036 Hayasaka, T., 120 Hayward, S.W., 734 Hazel, T., 177 He, L., 106, 661 He, P.‐L., 499 Heer, R., 734 Heldring, N., 1190 Henry, T.D., 1147 Hensley, T., 786 Hepburn, A.C., 734 Herpelinck, T., 389 Herrera, C., 674 Herreros, M.D., 295 Herrmann, H., 1331 Herschman, H.R., 499 Hettige, N., 697 Hill, J.C., 1007 Hjelmborg, J.B., 189 Hoey, D.A., 1431 Hoffman, R., 531 Hogg, P.J., 403 Hong, S.G., 1203 Hoorn, E.J., 478 Horiuchi, K., 120 Hornsby, P., 221 Hou, P., 773 Howard, J., 1137 Hsu, G.C‐Y., 1617 Hu, X., 1257 Huang, B., 655 Huang, S., 1102 Hunsberger, J., 728 Huselstein, C., 1488 Hutton, B., 158 Hyllen, A.A., 686 I Iancu‐Rubin, C., 531 Iaquinta, M.R., 377 Ibrahim, A., 1651 Iida, T., 465 Impastato, R., 235 Introna, M., 427 Isseroff, R.R., 1353 Ivanov, D., 1331 J Jackson, C.J., 316 Jackson, J., 80 Jackson, M., 403 Jaconi, M.E., 575 James, A.W., 1617 Jansen, G., 478 Jaworski, A., 1102 Jefri, M., 697 Ji, B., 465 Ji, F., 813 Jin, Y., 813 Jinzaki, M., 465 Jønsson, B., 1277 Johe, K., 177 Johnson, G.L., 1147 Johnson, G.P., 1431 Johnson, J., 728 Johnson, S., 1102 Johnson, V., 235 Jones, M., 221 Joy, J., 221 Juhas, S., 177 Juhasova, J., 177 Jung, S., 1036 K Kabara, M., 120 Kabat, M., 17 Kadri, N., 1190 Kadyk, L.C., 959 Kakinohana, M., 177 Kallmeyer, K., 131 Kallos, M.S., 1036 Kalsin, V., 6 Kamizato, K., 177 Kaneko, Y., 203 Kang, M., 169 Kano, K., 120 Karlsson, U., 47 Kassem, M., 189 Katz, A.J., 1277 Kavanagh, D., 1585 Kawabe, Jun‐ichi, 120 Kenter, A.T., 478 Khazaei, M., 1509 Khoury, O., 61 Kim, I.Y., 1643 Kim, Y.S., 839 Kindwall‐Keller, T.L., 1153 Kingsbury, C., 203 Kistler, B., 1137 Kitoko, J.Z., 250 Klein, M., 1203 Kølle, Stig‐Frederik T., 1277 Knight, S., 47 Kock, N.D., 80 Koga, M., 203 Kokaia, Z., 1365 Konoplyannikov, M., 6 Kopp, S., 882 Korolchuk, V.I., 1585 Koroleva, I., 6 Kostidis, S., 758 Kotova, S., 6 Kowal, J.M., 189 Krasnodembskaya, A., 28, 815 Krause, K.‐H., 131 Krawetz, R., 1036 Krüger, M., 882 Krishnan, J., 697 Kubrova, E., 1007 Kumar, A., 903 Kumar, P., 936 Kumar, S., 17 Kurtzberg, J., 1007, 1118, 1137 Kurzawa‐Akanbi, M., 1585 Kuzyakiv, R., 575 Kvanta, A., 936 Kvist, G., 1365 L L.von Bahr, 1190 Labour, M.‐N., 1431 Lako, M., 1531, 1585 Lalu, M., 39 Lambris, J.D., 1585 Lanner, F., 936 Larijani, L., 1036 Laroye, C., 1488 Laterza, C., 1365 Le Blanc, K., 1190 Lebert, M., 882 Lee, B., 1036 Lee, C., 302 Lee, J., 1102 Lee, J.H.,

Stem cells translational medicine, 2020-12, Vol.9 (12), p.1669-1674

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Recessive inheritance of von Willebrand's disease type I

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