Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma bothnia type

Journal of Investigative Dermatology

Volumn 134, Issue 1, 2014, Pages 284-287

  Cao, Xu ^a,b,c   Yin, Jinghua ^a,b   Wang, Huijun ^a,b   Zhao, Jiahui ^a,b   Zhang, Jie ^a,b   Dai, Lanlan ^d   Zhang, Jianguo ^d   Jiang, Hui ^d   Lin, Zhimiao ^a,b   Yang, Yong ^a,b,c  

^a PEKING UNIVERSITY FIRST HOSPITAL   (China)

^b BEIJING KEY LABORATORY OF MOLECULAR DIAGNOSIS ON DERMATOSES   (China)

^c Tsinghua University   (China)

^d BGI SHENZHEN   (China)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 5; PROTEIN; SLC4A8 PROTEIN; UNCLASSIFIED DRUG;

ADULT; APOPTOSIS; CHINESE; CHROMOSOMAL LOCALIZATION; CHROMOSOME 12Q; CLINICAL ARTICLE; DERMATOPHYTOSIS; DERMIS; ETHNICITY; EXOME; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENE SEQUENCE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERHIDROSIS; HYPERKERATOSIS; IMMUNOHISTOCHEMISTRY; INFLAMMATORY INFILTRATE; KERATINOCYTE; LETTER; LYMPHOCYTIC INFILTRATION; MALE; MISSENSE MUTATION; ONYCHOMYCOSIS; PALMOPLANTAR KERATODERMA; PALMOPLANTAR KERATODERMA BOTHNIA TYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT INFECTION; SKIN MACERATION; STRATUM CORNEUM; SWEATING; TINEA PEDIS; WILD TYPE;

EID: 84891030120     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.302     Document Type: Letter

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