Two different PAX3 gene mutations causing Waardenburg syndrome type I

Molecular and Cellular Probes

Volumn 10, Issue 3, 1996, Pages 229-231

  Wildhardt, G ^a,b   Winterpacht, A ^b   Hilbert, K ^b   Menger, H ^b   Zabel, B ^b  

^a Laboratory Dres Kapp et al   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Deafness; Homeobox; Paired box; PAX3; Waardenburg syndrome

Indexed keywords

ARGININE; CYSTEINE;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; BASE PAIRING; CHROMOSOME 2Q; CONGENITAL DEAFNESS; GENE MUTATION; HOMEOBOX; HUMAN; HUMAN CELL; NOSE MALFORMATION; PRIORITY JOURNAL; SHORT SURVEY; WAARDENBURG SYNDROME;

BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA-BINDING PROTEINS; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS; WAARDENBURG'S SYNDROME;

EID: 0029890469     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1006/mcpr.1996.0032     Document Type: Article

References (10)

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