M34T and V37I mutations in GJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

American Journal of Medical Genetics, Part A

Volumn 143, Issue 21, 2007, Pages 2534-2543

  Pollak, Agnieszka ^a   Skórka, Agata ^b   Mueller Malesińska, Małgorzata ^a   Kostrzewa, Grazyna ^b   Kisiel, Bartłomiej ^c   Waligóra, Jarosław ^b   Krajewski, Paweł ^b   Ołdak, Monika ^d   Korniszewski, Lech ^a   Skarzyński, Henryk ^a   Ploski, Ratal ^b  

^a INSTITUTE OF PHYSIOLOGY AND PATHOLOGY OF HEARING   (Poland)

^b MEDICAL UNIVERSITY OF WARSAW   (Poland)

^c MILITARY INSTITUTE OF MEDICINE   (Poland)

^d MEDICAL UNIVERSITY OF WARSAW   (Poland)

Author keywords

Genotype; GJB2; IVS1 + IG > A; M34T; Mutation; Non syndromic deafness; Penetrance; Phenotype; Poland; V37I

Indexed keywords

CONNEXIN 30; GAP JUNCTION PROTEIN;

ARTICLE; CORRELATION ANALYSIS; DISEASE ASSOCIATION; DISEASE COURSE; GENE; GENE DELETION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC VARIABILITY; GENOTYPE; HEARING IMPAIRMENT; HUMAN; M34T GENE; MAJOR CLINICAL STUDY; PATHOGENICITY; PERCEPTION DEAFNESS; POLAND; PRIORITY JOURNAL; V371 GENE;

ADULT; AGE OF ONSET; CASE-CONTROL STUDIES; COHORT STUDIES; CONNEXINS; DISEASE PROGRESSION; DNA; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; MALE; MIDDLE AGED; MUTATION; PENETRANCE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 35848958382     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31982     Document Type: Article

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