Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients

Annals of Human Genetics

Volumn 73, Issue 2, 2009, Pages 171-175

  Thys, M ^a   Schrauwen, I ^a   Vanderstraeten, K ^a   Dieltjens, N ^a   Fransen, E ^a   Ealy, M ^b   Cremers, C W R J ^c   Van De Heyning, P ^d   Vincent, R ^e   Offeciers, E ^f   Smith, R H ^b   Van Camp, Guy ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITY OF IOWA HEALTH CARE   (United States)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^e Jean Causse Ear Clinic   (France)

^f SINT AUGUSTINUS HOSPITAL   (Belgium)

Author keywords

Otosclerosis; Rare variants; TGFB1

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; COMPUTER ANALYSIS; CONTROLLED STUDY; DNA SEQUENCE; EXON; GENE IDENTIFICATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; INTRON; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OTOSCLEROSIS; PRIORITY JOURNAL; PROTEIN FUNCTION;

CASE-CONTROL STUDIES; DNA MUTATIONAL ANALYSIS; EUROPE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION, MISSENSE; OTOSCLEROSIS; TRANSFORMING GROWTH FACTOR BETA1;

EID: 60549089067     PISSN: 00034800     EISSN: 14691809     Source Type: Journal    
DOI: 10.1111/j.1469-1809.2009.00505.x     Document Type: Article

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