Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility - 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.; et al. (American journal of human genetics, 2012)
Keywords: Adaptor Proteins, Signal Transducing - genetics; Adaptor Proteins, Signal Transducing - metabolism; Base Sequence; Biological and medical sciences; Epidermal growth factor; Female; Fundamental and applied biological sciences. Psychology; Genetic disorders; Genetics of eukaryotes. Biological and molecular evolution; Germ-Line Mutation; Hair Diseases - congenital; Hair Diseases - diagnosis; Hair Diseases - genetics; Humans; Keratinocytes - metabolism; Keratinocytes - pathology; Male; Medical genetics; Medical sciences; Molecular and cellular biology; Mutation; Pedigree; Proteins; rab GTP-Binding Proteins - metabolism; Signal transduction; Skin; Skin - pathology; Skin - ultrastructure; Iraq; Genetics; Skin; Mutation; Germ line; Protein