Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia

European Journal of Human Genetics

Volumn 9, Issue 5, 2001, Pages 355-363

  Vincent, Marie C ^a   Biancalana, Valérie ^b   Ginisty, Danièle ^c   Mandel, Jean L ^b,d   Calvas, Patrick ^a  

^a CHU PURPAN   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

^d INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

Ectodysplasin; ED1 gene; Mutational spectrum; Phenotype genotype correlation; Recurrent mutation

Indexed keywords

DINUCLEOTIDE; ED 1 PROTEIN; MEMBRANE PROTEIN; MICROSATELLITE DNA; UNCLASSIFIED DRUG;

ALTERNATIVE RNA SPLICING; ARTICLE; CHROMOSOME XQ; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; CONTROLLED STUDY; CORRELATION FUNCTION; CPG ISLAND; DIAGNOSTIC PROCEDURE; DISEASE SEVERITY; FAMILY; FEMALE; FOUNDER EFFECT; GENE DELETION; GENE INACTIVATION; GENE INSERTION; GENE LOCATION; GENE MUTATION; GENETIC CODE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HAIR GROWTH; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; HYPOTHESIS; LEUKOCYTE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECURRENT DISEASE; SEQUENCE ANALYSIS; SWEAT GLAND; TOOTH DEVELOPMENT; X CHROMOSOME LINKED DISORDER;

DOSAGE COMPENSATION, GENETIC; ECTODERMAL DYSPLASIA; ECTODYSPLASINS; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MUTATION; PHENOTYPE; STATISTICS; VARIATION (GENETICS); X CHROMOSOME;

EID: 0034981134     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200635     Document Type: Article

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