Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome

Human Mutation

Volumn 7, Issue 1, 1996, Pages 30-35

  Asher Jr , James H ^a   Sommer, Annemarie ^c   Morell, Robert ^a   Friedman, Thomas B ^a,b  

^a MICHIGAN STATE UNIVERSITY   (United States)

^b MICHIGAN STATE UNIVERSITY   (United States)

^c THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Craniofacial dysmorphology; Deafness; Paired domain mutation; PAX3 mutation

Indexed keywords

DNA;

AMINO ACID SUBSTITUTION; ARTICLE; CRANIOFACIAL DEAFNESS HAND SYNDROME; CRANIOFACIAL MALFORMATION; GENE AMPLIFICATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SYNDROME DELINEATION; WAARDENBURG SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; DEAFNESS; DNA-BINDING PROTEINS; FACIAL BONES; FEMALE; FRAMESHIFT MUTATION; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SKULL; SYNDROME; TRANSCRIPTION FACTORS;

EID: 0030030303     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(sici)1098-1004(1996)7:1<30::aid-humu4>3.3.co;2-h     Document Type: Article

References (13)

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