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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Vydáno v:Hum Genome Var
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2015
Témata:
Data Report
On-line přístup: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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