Identification and clinical implications of novel MYO15A mutations in a non-consanguineous Korean family by targeted exome sequencing

Molecules and Cells

Volumn 38, Issue 9, 2015, Pages 781-788

  Chang, Mun Young ^b   Kim, Ah Reum ^b   Kim, Nayoung K D ^c   Lee, Chung ^c,d   Lee, Kyoung Yeul ^e   Jeon, Woo Sung ^e   Koo, Ja Won ^a   Oh, Seung Ha ^b   Park, Woong Yang ^c,d,f   Kim, Dongsup ^e   Choi, Byung Yoon ^a  

^a Seoul National University   (South Korea)

^b Seoul National University Hospital   (South Korea)

^c Samsung Medical Center   (South Korea)

^d Samsung Advanced Institute of Technology (SAIT)   (South Korea)

^e Korea Advanced Institute of Science and Technology (KAIST)   (South Korea)

^f Sungkyunkwan University   (South Korea)

Author keywords

Cochlear implantation; Mutation; MYO15A; Nonsyndromic; Sensorineural hearing loss (NSHL)

Indexed keywords

ACTIN; MYOSIN; MYO15A PROTEIN, HUMAN;

AMINO TERMINAL SEQUENCE; ARTICLE; BINDING SITE; CLINICAL ARTICLE; CONTROLLED STUDY; EXOME; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MYO15A GENE; PERCEPTION DEAFNESS; PROTEIN DOMAIN; AMINO ACID SEQUENCE; CHEMISTRY; COCHLEAR IMPLANTATION; DEAFNESS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENETICS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PEDIGREE; SEQUENCE ANALYSIS; SOUTH KOREA;

AMINO ACID SEQUENCE; BASE SEQUENCE; BINDING SITES; COCHLEAR IMPLANTATION; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXOME; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; MYOSINS; PEDIGREE; REPUBLIC OF KOREA; SEQUENCE ANALYSIS, RNA;

EID: 84949988975     PISSN: 10168478     EISSN: 02191032     Source Type: Journal    
DOI: 10.14348/molcells.2015.0078     Document Type: Article

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