Mutations in EXPH5 result in autosomal recessive inherited skin fragility

British Journal of Dermatology

Volumn 170, Issue 1, 2014, Pages 196-199

  Liu, L ^a   Mellerio, J E ^b,c   Martinez, A E ^c   McMillan, J R ^a   Aristodemou, S ^a   Parsons, M ^d   McGrath, J A ^b  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; EXOPHILIN 5; GENOMIC DNA; UNCLASSIFIED DRUG; EXPH5 PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CHILD; FRAMESHIFT MUTATION; GENE; GENOTYPE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; INTERNATIONAL NORMALIZED RATIO; KERATINOCYTE; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; PARTIAL THROMBOPLASTIN TIME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; SCAR FORMATION; SEQUENCE ANALYSIS; SKIN BIOPSY; SKIN BLEEDING; SKIN BRUISING; SKIN DEFECT; SKIN FRAGILITY; TRANSMISSION ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA SIMPLEX; GENETICS; MUTATION; PATHOLOGY;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; CHILD, PRESCHOOL; EPIDERMOLYSIS BULLOSA SIMPLEX; HUMANS; KERATINOCYTES; MALE; MUTATION;

EID: 84892382908     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.12723     Document Type: Article

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