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

Author:

John A. McGrath,Kristina L. Stone,Rumena Begum,Michael A. Simpson,Patricia J. Dopping-Hepenstal,Lu Liu,James R. McMillan,Andrew P. South,Celine Pourreyron,W.H. Irwin McLean,Anna E. Martinez,Jemima E. Mellerio,Maddy Parsons

Publication:

The American Journal of Human Genetics

Publisher:

Elsevier

Date:

7 December 2012

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