Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia

British Journal of Dermatology

Volumn 153, Issue 1, 2005, Pages 46-50

  Naeem, M ^a   Muhammad, D ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

EDAR; Hypohidrotic ectodermal dysplasia; Pakistani families

Indexed keywords

ECTODYSPLASIN A; GENOMIC DNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 2Q; CONSANGUINITY; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; EDAR GENE; EXON; GENE; GENE AMPLIFICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MARKER GENE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

ADOLESCENT; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EDAR RECEPTOR; FACIES; FEMALE; GENES, RECESSIVE; GENOTYPE; HUMANS; HYPOHIDROSIS; MALE; MEMBRANE PROTEINS; MUTATION; PAKISTAN; PEDIGREE; PHENOTYPE; RECEPTORS, ECTODYSPLASIN; RECEPTORS, TUMOR NECROSIS FACTOR;

EID: 22944475319     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2005.06642.x     Document Type: Article

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