Dominant and Recessive Forms of Fibrochondrogenesis Resulting from Mutations at a Second Locus, COL11A2

Fibrochondrogenesis is a severe, recessively inherited skeletal dysplasia shown to result from mutations in the gene encoding the proα1(XI) chain of type XI collagen, COL11A1. The first of two cases reported here was the affected offspring of first cousins and sequence analysis excluded mutations in...

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Detalhes bibliográficos
Main Authors: Tompson, Stuart W., Faqeih, Eissa Ali, Ala-Kokko, Leena, Hecht, Jacqueline T., Miki, Rika, Funari, Tara, Funari, Vincent A., Nevarez, Lisette, Krakow, Deborah, Cohn, Daniel H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3264686/
https://ncbi.nlm.nih.gov/pubmed/22246659
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34406
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