A novel S269C mutation in fibroblast growth factor receptor 3 in a Japanese child with hypochondroplasia

Functionally activating mutations in fibroblast growth factor receptor 3 (FGFR3) can cause four types of autosomal dominant skeletal dysplasia with short-limbed dwarfism that include the mildest phenotype, hypochondroplasia (HCH). A novel mutation (c.805A>T, p.S269C) was identified in a Japanese...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Takahashi, Ikuko, Kondo, Daiki, Oyama, Chikako, Yano, Tamami, Tamura, Hiroaki, Noguchi, Atsuko, Takahashi, Tsutomu
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2018
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5933720/
https://ncbi.nlm.nih.gov/pubmed/29736252
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0001-2
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