Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome

Warburg micro syndrome is an autosomal recessive disease where patients present with optic, neurologic and genital symptoms. Until now, four disease genes for Warburg micro syndrome, RAB3GAP1, RAB3GAP2, RAB18 and TBC1D20, have been identified. Here, we report two novel homozygous RAB3GAP1 mutations...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Imagawa, Eri, Fukai, Ryoko, Behnam, Mahdiyeh, Goyal, Manisha, Nouri, Narges, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Salehi, Mansour, Kapoor, Seema, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2015
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4785564/
https://ncbi.nlm.nih.gov/pubmed/27081543
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2015.34
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