The molecular basis of X-linked deafness type 3 (DFN3) in two sporadic cases: Identification of a somatic mosaicism for a POU3F4 missense mutation

Human Mutation

Volumn 10, Issue 3, 1997, Pages 207-211

  De Kok, Yvette J M ^a   Cremers, Cor W R J ^a   Ropers, Hans Hilger ^a   Cremers, Frans P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

POU homeodomain; POUBF4 missense mutation; X linked deafness type 3

Indexed keywords

AMINO ACID; ARGININE; DNA; GLYCINE; HOMEODOMAIN PROTEIN;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CONGENITAL DEAFNESS; CONTROLLED STUDY; DNA BINDING; DNA SEQUENCE; GENE; GENE MUTATION; HUMAN; HUMAN CELL; HYBRIDIZATION; MALE; MISSENSE MUTATION; MOSAICISM; OPEN READING FRAME; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TOMOGRAPHY; X CHROMOSOME LINKED DISORDER;

ADULT; ALLELES; DEAFNESS; DNA PRIMERS; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOSAICISM; NUCLEIC ACID HYBRIDIZATION; POINT MUTATION; POU DOMAIN FACTORS; TRANSCRIPTION FACTORS; X CHROMOSOME;

EID: 0030768852     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:3<207::AID-HUMU5>3.0.CO;2-F     Document Type: Article

References (8)

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