A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: A possible novel cause of hypohidrotic ectodermal dysplasia

Journal of Medical Genetics

Volumn 49, Issue 8, 2012, Pages 499-501

  Wisniewski, Slawomir Aleksander ^a,b   Trzeciak, Wieslaw Henryk ^a  

^a Faculty of Public Health   (Poland)

^b DNA Research Centre   (Poland)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT;

ADOLESCENT; ARTICLE; CASE REPORT; DNA FLANKING REGION; EXON; FRAMESHIFT MUTATION; GENE; GENE AMPLIFICATION; GENE LOCATION; GENE MUTATION; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; MALE; NONHUMAN; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SYMPTOM; TRAF6 GENE; XEDAR GENE;

ADOLESCENT; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; ECCRINE GLANDS; ECTODERMAL DYSPLASIA; GENOME, HUMAN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PROTEIN INTERACTION DOMAINS AND MOTIFS; SEQUENCE DELETION; TNF RECEPTOR-ASSOCIATED FACTOR 6; XEDAR RECEPTOR;

EID: 84866319505     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2012-100877     Document Type: Article

References (8)

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