Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

The Rab GTPase Rab27B and one of its effector proteins, Slac2-b (also known as EXPH5, exophilin-5), have putative roles in intracellular vesicle trafficking but their relevance to human disease is not known. By using whole-exome sequencing, we identified a homozygous frameshift mutation in EXPH5 in...

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Autors principals: McGrath, John A., Stone, Kristina L., Begum, Rumena, Simpson, Michael A., Dopping-Hepenstal, Patricia J., Liu, Lu, McMillan, James R., South, Andrew P., Pourreyron, Celine, McLean, W.H. Irwin, Martinez, Anna E., Mellerio, Jemima E., Parsons, Maddy
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3516608/
https://ncbi.nlm.nih.gov/pubmed/23176819
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.10.012
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