Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma

American Journal of Human Genetics

Volumn 93, Issue 2, 2013, Pages 330-335

  Blaydon, Diana C ^a   Lind, Lisbet K ^b   Plagnol, Vincent ^c   Linton, Kenneth J ^a   Smith, Francis J D ^d   Wilson, Neil J ^d   McLean, W H Irwin ^d   Munro, Colin S ^e   South, Andrew P ^d   Leigh, Irene M ^d   O'Toole, Edel A ^a   Lundström, Anita ^f   Kelsell, David P ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UMEÅ UNIVERSITY HOSPITAL   (Sweden)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d UNIVERSITY OF DUNDEE   (United Kingdom)

^e SOUTHERN GENERAL HOSPITAL   (United Kingdom)

^f UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 5;

ALLELE; AQP5 GENE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CELL MEMBRANE; CONTROLLED STUDY; EPIDERMIS; EPITHELIUM CELL; EXOME; GENE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN TISSUE; HYPERKERATOSIS; IMMUNOFLUORESCENCE; IMMUNOHISTOCHEMISTRY; KERATINOCYTE; MICROTUBULE ASSEMBLY; MISSENSE MUTATION; MOLECULAR DYNAMICS; NONEPIDERMOLYTIC PALMOPLANTAR KERATODERMA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SKIN BIOPSY; SKIN WATER LOSS; WATER TRANSPORT;

AQUAPORIN 5; BASE SEQUENCE; CELL MEMBRANE; EPIDERMIS; GENES, DOMINANT; HUMANS; KERATODERMA, PALMOPLANTAR, DIFFUSE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEIN TRANSPORT; WATER; WRIST;

EID: 84881662466     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.06.008     Document Type: Article

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