Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2015-12

AUTHORS

Eri Imagawa, Ryoko Fukai, Mahdiyeh Behnam, Manisha Goyal, Narges Nouri, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Mansour Salehi, Seema Kapoor, Fumiaki Tanaka, Noriko Miyake, Naomichi Matsumoto

ABSTRACT

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 (c.22G>T, p.Glu8* and c.1353delA, p.Pro452Hisfs*5) in two consanguineous families by whole-exome sequencing. More... »

PAGES

15034

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2015.34

DOI

http://dx.doi.org/10.1038/hgv.2015.34

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1027556385

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27081543


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