A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia [9]

Journal of Investigative Dermatology

Volumn 111, Issue 6, 1998, Pages 1246-1247

  Yotsumoto, S ^a   Fukumaru, S ^a   Matsushita, S ^a   Oku, T ^a   Kobayashi, K ^a   Saheki, T ^a   Kanzaki, T ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ANHIDROTIC ECTODERMAL DYSPLASIA; BLOOD SAMPLING; HUMAN; LETTER; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; RESTRICTION MAPPING; SWEAT GLAND;

EID: 0032457229     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1998.00443.x     Document Type: Letter

References (4)

1. S. Ezer D. Schlessinger A. Srivastava J. Kere Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding Hum Mol Genet 6 1997 1581 1587
2. J.M. Hertz K. Norgaard Hansen I. Juncker M. Kjeldsen N. Gregersen A novel missense mutation (402C→T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia Clin Genet 53 1998 205 209
3. J. Kere A.K. Srivastava O. Montonen X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein Nature Genet 13 1996 409 416
4. V.A. McKusick Mendelian Inheritance in Man 11 1994 Johns Hopkins University Press Baltimore