A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia

Dermatology

Volumn 207, Issue 2, 2003, Pages 178-181

  Nishibu, Akiko ^a   Hashiguchi, Takaki ^b   Yotsumoto, Shinichi ^b   Takahashi, Masafumi ^a   Nakamura, Koichiro ^a   Kanzaki, Tamotsu ^b   Kaneko, Fumio ^a  

^a FUKUSHIMA MEDICAL UNIVERSITY   (Japan)

^b KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

Ectodysplasin A; ED1 gene; X linked hypohidrotic ectodermal dysplasia

Indexed keywords

ECTODYSPLASIN A; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; EXON; EXTRACELLULAR SPACE; FRAMESHIFT MUTATION; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCUS; GENETIC ANALYSIS; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; INFANT; MALE; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; STOP CODON; X CHROMOSOME LINKAGE;

CHILD, PRESCHOOL; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; SKIN;

EID: 0042008052     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000071790     Document Type: Article

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