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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Gepubliceerd in:Hum Genome Var
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2015
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Data Report
Online toegang: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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