Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations

Clinical Genetics

Volumn 86, Issue 3, 2014, Pages 270-275

  Lee, H J ^a,b   Jung, J ^b,c   Shin, J W ^a,d   Song, M H ^a   Kim, S H ^a   Lee, J H ^c   Lee, K A ^c   Shin, S ^c   Kim, U K ^e   Bok, J ^c   Lee, K Y ^e   Choi, J Y ^a,b   Park, H J ^d  

^a Department of Otorhinolaryngology ^*  (South Korea)

^b BK21 Project for Medical Science   (South Korea)

^c Yonsei University College of Medicine   (South Korea)

^d Soree Ear Clinic   (South Korea)

^e Kyungpook National University   (South Korea)

Author keywords

Anion exchanger; Mondini dysplasia; Pendred syndrome; RNA splicing

Indexed keywords

MESSENGER RNA; PENDRIN; CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANION EXCHANGE; ARTICLE; BILATERAL HEARING LOSS; CHILD; EAST ASIAN; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOTE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; VESTIBULE AQUEDUCT; GENETICS; GENOTYPE; HEARING IMPAIRMENT; HEK293 CELL LINE; METABOLISM; MUTATION; PATHOLOGY; PHENOTYPE; SOUTH KOREA;

DEAFNESS; GENE FREQUENCY; GENOTYPE; HEK293 CELLS; HUMANS; MEMBRANE TRANSPORT PROTEINS; MUTATION; PHENOTYPE; REPUBLIC OF KOREA; VESTIBULAR AQUEDUCT;

EID: 84907599041     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12273     Document Type: Article

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