Identification of two PAX3 mutations causing waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)

Human Mutation

Volumn 11, Issue SUPPL 1, 1998, Pages

  Hol, Frans A ^a   Geurds, Monique P A ^a   Cremers, Cor W R J ^a   Hamel, Ben C J ^a   Mariman, Edwin C M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 2Q; CLINICAL ARTICLE; DNA FLANKING REGION; GENE LOCATION; HUMAN; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; WAARDENBURG SYNDROME; AMINO ACID SUBSTITUTION; BINDING SITE; CASE REPORT; CHEMISTRY; FAMILY HEALTH; FATALITY; FEMALE; GENETICS; MUTATION; NEWBORN; NUCLEOTIDE SEQUENCE; PATHOLOGY; SINGLE STRAND CONFORMATION POLYMORPHISM; STOP CODON;

DNA; DNA BINDING PROTEIN; GLUTAMINE; METHIONINE; PAIRED BOX TRANSCRIPTION FACTOR; PAX3 PROTEIN, HUMAN; PAX3 PROTEIN, MOUSE; TRANSCRIPTION FACTOR; VALINE;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; BASE SEQUENCE; BINDING SITES; CODON, TERMINATOR; DNA; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; FAMILY HEALTH; FATAL OUTCOME; FEMALE; GLUTAMINE; HUMANS; INFANT, NEWBORN; METHIONINE; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS; VALINE; WAARDENBURG'S SYNDROME;

EID: 0031964982     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.1380110149     Document Type: Article

References (10)

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