Moderate hearing loss and pseudodominant inheritance due to L90P/35delG mutations in the GJB2 (connexin 26) gene

Genetic Counseling

Volumn 14, Issue 4, 2003, Pages 379-386

  Tekin, Mustafa ^a,c   Duman, T ^a   Bogoclu G ^a   Incesulu, A ^b   Cin, S ^a   Akar, N ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Social Security Hospital   (Turkey)

^c NONE   (Turkey)

Author keywords

Connexin 26; Deafness; Genotype phenotype; L90P mutation; Pseudodominant inheritance

Indexed keywords

CONNEXIN 26; DNA;

ADULT; ARTICLE; CASE REPORT; COCHLEA PROSTHESIS; CONGENITAL DEAFNESS; DELETION MUTANT; DOMINANT INHERITANCE; EVOKED BRAIN STEM AUDITORY RESPONSE; FAMILY HISTORY; FEMALE; GENETIC COUNSELING; GENETIC SCREENING; GENOTYPE; HEARING AID; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MALE; PERCEPTION DEAFNESS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PSEUDODOMINANCE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; TURKEY (REPUBLIC);

ADULT; CHILD, PRESCHOOL; CONNEXINS; FEMALE; GENETIC COUNSELING; HEARING LOSS, SENSORINEURAL; HUMANS; INHERITANCE PATTERNS; MALE; MUTATION; PEDIGREE; TURKEY;

EID: 0348155637     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

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