Mutations in KARS, encoding Lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89

American Journal of Human Genetics

Volumn 93, Issue 1, 2013, Pages 132-140

  Santos Cortez, Regie Lyn P ^a   Lee, Kwanghyuk ^a   Azeem, Zahid ^b,c   Antonellis, Patrick J ^d,e   Pollock, Lana M ^d,e   Khan, Saadullah ^b   Irfanullah, ^b   Andrade Elizondo, Paula B ^a   Chiu, Ilene ^a   Adams, Mark D ^e   Basit, Sulman ^b   Smith, Joshua D ^f   Nickerson, Deborah A ^f   McDermott, Brian M ^d,e   Ahmad, Wasim ^b   Leal, Suzanne M ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b QUAID I AZAM UNIVERSITY   (Pakistan)

^c Muzaffarabad   (Pakistan)

^d CASE WESTERN RESERVE UNIVERSITY   (United States)

^e CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOLOGICAL MARKER; KARS PROTEIN; LYSINE TRANSFER RNA LIGASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIOINFORMATICS; ETHNICITY; GENE FREQUENCY; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC VARIABILITY; HEARING IMPAIRMENT; HUMAN; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

DANIO RERIO; GALLUS GALLUS; MUS;

EID: 84880292975     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.05.018     Document Type: Article

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