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

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, Madeline Parsons

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Biochemistry, Genetics and Molecular Biology

Immunology and Microbiology