Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
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Author / Creator
Kinoshita, Akira , Saito, Takashi , Tomita, Hiro-aki , Makita, Yoshio , Yoshida, Kunihiro , Ghadami, Mohsen , Yamada, Koki , Kondo, Shinji , Ikegawa, Shiro , Nishimura, Gen , Fukushima, Yoshimitsu , Nakagomi, Tadashi , Saito, Haruki , Sugimoto, Takeo , Kamegaya, Makoto , Hisa, Kenji , Murray, Jeffrey C. , Taniguchi, Naoyuki , Niikawa, Norio and Yoshiura, Koh-ichiro
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publisher
New York: Nature Publishing Group US
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More information
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Contents
Camurati-Engelmann disease (CED, MIM 131300) is an autosomal dominant, progressive diaphyseal dysplasia characterized by hyperosteosis and sclerosis of the diaphyses of long bones
1
. We recently assigned the CED locus to an interval between
D19S422
and
D19S606
at chromosome 19q13.1–q13.3 (ref.
2
), which two other groups co...
Alternative Titles
Full title
Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
Authors, Artists and Contributors
Author / Creator
Saito, Takashi
Tomita, Hiro-aki
Makita, Yoshio
Yoshida, Kunihiro
Ghadami, Mohsen
Yamada, Koki
Kondo, Shinji
Ikegawa, Shiro
Nishimura, Gen
Fukushima, Yoshimitsu
Nakagomi, Tadashi
Saito, Haruki
Sugimoto, Takeo
Kamegaya, Makoto
Hisa, Kenji
Murray, Jeffrey C.
Taniguchi, Naoyuki
Niikawa, Norio
Yoshiura, Koh-ichiro
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_72232765
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_72232765
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/79128
