A novel arginine→serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia [2]

Journal of Investigative Dermatology

Volumn 115, Issue 2, 2000, Pages 329-330

  Aoki, N ^a   Ito, K ^a   Tachibana, T ^a   Ito, M ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; SERINE; MEMBRANE PROTEIN;

AMINO ACID SUBSTITUTION; ANHIDROTIC ECTODERMAL DYSPLASIA; CODON; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HETEROZYGOTE DETECTION; HUMAN; HUMAN TISSUE; JAPAN; LETTER; MALE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; X CHROMOSOME LINKAGE; ASIAN; CASE REPORT; ECTODERMAL DYSPLASIA; GENETIC LINKAGE; GENETICS; MUTATION; X CHROMOSOME;

AMINO ACID SUBSTITUTION; ARGININE; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; HUMANS; JAPAN; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; SERINE; X CHROMOSOME;

EID: 0033624559     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2000.00065-1.x     Document Type: Letter

References (5)

1. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats
2. The gene for X-linked anhidrotic ectodermal dysplasia encodes a TNF-like domain
3. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
4. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations