Preimplantation Genetic Diagnosis for a Chinese Family with Autosomal Recessive Meckel-Gruber Syndrome Type 3 (MKS3)

Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here w...

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Detalhes bibliográficos
Main Authors: Lu, Yanping, Peng, Hongmei, Jin, Zhanguo, Cheng, Jing, Wang, Shufang, Ma, Minyue, Lu, Yu, Han, Dongyi, Yao, Yuanqing, Li, Yali, Yuan, Huijun
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3764130/
https://ncbi.nlm.nih.gov/pubmed/24039893
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0073245
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