X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein

Nature Genetics

Volumn 13, Issue 4, 1996, Pages 409-416

  Kere, Juha ^a   Srivastava, Anand K ^b,c   Montonen, Outi ^a   Zonana, Jonathan ^d   Thomas, Nick ^e   Ferguson, Betsy ^d   Munoz, Felix ^d   Morgan, Delyth ^e   Clarke, Angus ^e   Baybayan, Primo ^f   Chen, Ellson Y ^f   Ezer, Sini ^a   Saarialho Kere, Ulpu ^a,g   De La Chapelle, Albert ^a   Schlessinger, David ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c GREENWOOD GENETIC CENTER   (United States)

^d OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^e CARDIFF UNIVERSITY   (United Kingdom)

^f APPLIED BIOSYSTEMS   (United States)

^g UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MEMBRANE PROTEIN;

ANHIDROTIC ECTODERMAL DYSPLASIA; ARTICLE; AUTOSOME ABERRATION; EXON; GENE DELETION; GENE EXPRESSION; GENE MUTATION; HAIR FOLLICLE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; KERATINOCYTE; MAJOR CLINICAL STUDY; POINT MUTATION; PRIORITY JOURNAL; SWEAT GLAND; X CHROMOSOME LINKED DISORDER;

ADULT; ALLELES; ALOPECIA; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOMES, ARTIFICIAL, YEAST; CPG ISLANDS; DNA PRIMERS; DNA, COMPLEMENTARY; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; GENE EXPRESSION; HAIR; HUMANS; HYPOHIDROSIS; IN SITU HYBRIDIZATION; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; PROMOTER REGIONS (GENETICS); RNA, MESSENGER; SKIN PHYSIOLOGY; TOOTH ABNORMALITIES; TRANSLOCATION, GENETIC; X CHROMOSOME;

EID: 9344250077     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0895-409     Document Type: Article

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