Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss

International Journal of Pediatric Otorhinolaryngology

Volumn 73, Issue 1, 2009, Pages 103-107

  Teek, Rita ^a,b   Oitmaa, Eneli ^c   Kruustük, Katrin ^b   Zordania, Riina ^d   Joost, Kairit ^d   Raukas, Elve ^b   Tõnisson, Neeme ^b   Gardner, Phyllis ^e   Schrijver, Iris ^f   Kull, Mart ^a,b   Õunap, Katrin ^a,b  

^a UNIVERSITY OF TARTU   (Estonia)

^b TARTU UNIVERSITY HOSPITAL   (Estonia)

^c Asper Biotech Ltd   (Estonia)

^d TALLINN CHILDREN S HOSPITAL   (Estonia)

^e STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^f STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Deafness; Hearing; IVS2 2A>G; Prestin; Prestin gene; Sensorineural hearing loss; SLC26A5

Indexed keywords

PRESTIN; RNA 12S; SERINE TRANSFER RNA;

ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; DISEASE ASSOCIATION; DOWN SYNDROME; ESTONIA; FAMILIAL DISEASE; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GJA1 GENE; GJB2 GENE; GJB3 GENE; GJB6 GENE; HEARING LOSS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SLC26A4 GENE; SLC26A5 GENE;

ADOLESCENT; ADULT; AGE OF ONSET; ANION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; ESTONIA; HEARING LOSS; HETEROZYGOTE; HUMANS; INFANT; MIDDLE AGED; MUTATION; PEDIGREE; PREVALENCE; PROTEIN ISOFORMS;

EID: 57049175868     PISSN: 01655876     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ijporl.2008.10.003     Document Type: Article

References (11)

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