Genetic and clinical characterization of a novel FH founder mutation in families with hereditary lei...
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
About this item
Full title
Author / Creator
Sánchez-Heras, Ana Beatriz , Dámaso, Estela , Castillejo, Adela , Robledo, Mercedes , Teulé, Alexandre , Lázaro, Conxi , Sánchez-Martínez, Rosario , Zúñiga, Ángel , López-Fernández, Adrià , Balmaña, Judith , Robles, Luis , Ramon y Cajal, Teresa , Castillejo, M. Isabel , Ibañez, Raquel Perea , Sevila, Carmen Martínez , Sánchez-Mira, Andrea , Escandell, Inés , Gómez, Luís , Berbel, Pere and Soto, José Luis
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
Hereditary leiomyomatosis and renal cell cancer syndrome is a rare autosomal dominant hereditary syndrome. Previously, we published the largest cohort of FH mutation carriers in Spain and observed a highly recurrent missense heterozygous variant, FH(NM_000143.4):c.1118A > G p.(Asn373Ser), in 104 individuals from 31 apparently unrelated families. He...
Alternative Titles
Full title
Genetic and clinical characterization of a novel FH founder mutation in families with hereditary leiomyomatosis and renal cell cancer syndrome
Authors, Artists and Contributors
Author / Creator
Dámaso, Estela
Castillejo, Adela
Robledo, Mercedes
Teulé, Alexandre
Lázaro, Conxi
Sánchez-Martínez, Rosario
Zúñiga, Ángel
López-Fernández, Adrià
Balmaña, Judith
Robles, Luis
Ramon y Cajal, Teresa
Castillejo, M. Isabel
Ibañez, Raquel Perea
Sevila, Carmen Martínez
Sánchez-Mira, Andrea
Escandell, Inés
Gómez, Luís
Berbel, Pere
Soto, José Luis
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_070bf76381b143af84d1c37cc2907316
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_070bf76381b143af84d1c37cc2907316
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/s13023-024-03017-z
