Loss-of-function mutations and global rearrangements in GPC3 in patients with Simpson–Golabi–Behmel syndrome

Simpson–Golabi–Behmel syndrome is a congenital malformation syndrome associated with mutations in GPC3, which is located in the Xq26 region. Three new loss-of-function mutations and a global X-chromosome rearrangement involving GPC3 were identified. A female sibling of the patient, who presented wit...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Shimojima, Keiko, Ondo, Yumiko, Nishi, Eriko, Mizuno, Seiji, Ito, Miharu, Ioi, Aya, Shimizu, Mariko, Sato, Maho, Inoue, Masami, Okamoto, Nobuhiko, Yamamoto, Toshiyuki
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5061924/
https://ncbi.nlm.nih.gov/pubmed/27790374
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.33
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