EDAR mutation in autosomal dominant hypohidrotic ectodermal dysplasia in two Swedish families

BMC Medical Genetics

Volumn 7, Issue , 2006, Pages

  Lind, Lisbet K ^a   Stecksén Blicks, Christina ^a   Lejon, Kristina ^a   Schmitt Egenolf, Marcus ^a  

^a UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYTOSINE; DNA; ECTODYSPLASIN 1 ANHIDROTIC RECEPTOR; PROTEIN; THYMINE;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EMBRYO DEVELOPMENT; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC DISORDER; HAIR GROWTH; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; NAIL; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PROTEIN FUNCTION; PROTEIN POLYMORPHISM; STOP CODON; SWEAT GLAND; SWEDEN; TOOTH DEVELOPMENT;

ABNORMALITIES, MULTIPLE; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; ECTODERMAL DYSPLASIA; EDAR RECEPTOR; FAMILY HEALTH; FEMALE; GENES, DOMINANT; HUMANS; HYPOHIDROSIS; MALE; MUTATION; PEDIGREE; POLYMORPHISM, GENETIC; SWEDEN;

EID: 33845454645     PISSN: 14712350     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-7-80     Document Type: Article

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