Germline mutation in EXPH5 implicates the Rab27B effector protein Slac2-b in inherited skin fragility

American Journal of Human Genetics

Volumn 91, Issue 6, 2012, Pages 1115-1121

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

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; BETA4 INTEGRIN; F ACTIN; GUANOSINE TRIPHOSPHATASE; KERATIN; PROLINE; PROTEIN RAB27B; PROTEIN SLAC2 B; RAB PROTEIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

ARTICLE; BLISTER; CASE REPORT; CELL ADHESION; CLINICAL FEATURE; CONSANGUINITY; CONTROLLED STUDY; CYTOSKELETON; EPIDERMIS; EXOME; EXPH5 GENE; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GERM LINE; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INTERMEDIATE FILAMENT; INTRACELLULAR TRANSPORT; IRAQ; KERATINOCYTE; MALE; NUCLEOTIDE SEQUENCE; PIGMENT DISORDER; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SIBLING; SKIN FRAGILITY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; BASE SEQUENCE; FEMALE; GERM-LINE MUTATION; HAIR DISEASES; HUMANS; KERATINOCYTES; MALE; PEDIGREE; RAB GTP-BINDING PROTEINS; SKIN;

EID: 84870864024     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.10.012     Document Type: Article

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