Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing

BMC Medical Genetics

Volumn 15, Issue 1, 2014, Pages

  Woo, Hae Mi ^a   Park, Hong Joon ^b   Park, Mi Hyun ^a   Kim, Bo Young ^a   Shin, Joong Wook ^b   Yoo, Won G ^a   Koo, Soo K ^a  

^a Korea National Institute of Health   (South Korea)

^b Soree Ear Clinic   (South Korea)

Author keywords

CDH23; Hearing loss; Mutation; Whole exome sequencing

Indexed keywords

CADHERIN 23; CONNEXIN 26; PENDRIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS; CHILD; CLINICAL ARTICLE; COMPUTER MODEL; EXOME; EXON; GENE MUTATION; GENE SEQUENCE; HEARING IMPAIRMENT; HETEROZYGOSITY; HUMAN; KOREAN (PEOPLE); PATHOGENESIS; PRESCHOOL CHILD; PROTEIN FUNCTION; PROTEIN STRUCTURE; WHOLE EXOME SEQUENCING; AMINO ACID SUBSTITUTION; CASE REPORT; CONTROLLED STUDY; MISSENSE MUTATION; SEQUENCE ANALYSIS; STEREOSPECIFICITY;

AMINO ACID SEQUENCE; ASIAN CONTINENTAL ANCESTRY GROUP; AUDIOMETRY; CADHERINS; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; EXONS; FEMALE; HEARING LOSS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; MYOSINS; PEDIGREE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; PROTEIN INTERACTION DOMAINS AND MOTIFS; REPUBLIC OF KOREA; SEQUENCE ALIGNMENT;

EID: 84901636659     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-15-46     Document Type: Article

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