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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Bibliographische Detailangaben
Veröffentlicht in:Hum Genome Var
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
Schlagworte:
Data Report
Online Zugang: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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