Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 144-152

  Rehman, Atteeq U ^a   Santos Cortez, Regie Lyn P ^b   Morell, Robert J ^a   Drummond, Meghan C ^a   Ito, Taku ^a   Lee, Kwanghyuk ^b   Khan, Asma A ^c   Basra, Muhammad Asim R ^c   Wasif, Naveed ^d   Ayub, Muhammad ^e   Ali, Rana A ^c   Raza, Syed I ^f   Nickerson, Deborah A ^g   Shendure, Jay ^g   Bamshad, Michael ^g   Riazuddin, Saima ^h,i   Billington, Neil ^j   Khan, Shaheen N ^c   Friedman, Penelope L ^k   Griffith, Andrew J ^a   Ahmad, Wasim ^f   Riazuddin, Sheikh ^c,l   Leal, Suzanne M ^b   Friedman, Thomas B ^a   more..

^a NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF THE PUNJAB   (Pakistan)

^d UNIVERSITY OF LAHORE   (Pakistan)

^e UNIVERSITY OF BALOCHISTAN   (Pakistan)

^f QUAID I AZAM UNIVERSITY   (Pakistan)

^g UNIVERSITY OF WASHINGTON   (United States)

^h CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

ⁱ UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^j NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

^k NATIONAL INSTITUTES OF HEALTH   (United States)

^l UNIVERSITY OF HEALTH SCIENCES   (Pakistan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; GENOMIC DNA;

ADULT; ALLELE; ARTICLE; BRAIN DISEASE; CHILD; CHROMOSOME; CLINICAL ARTICLE; CONTROLLED STUDY; DEATH; DROSOPHILA; EPILEPSY; EXOME; FEMALE; GENE; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE; HEARING IMPAIRMENT; HUMAN; INNER EAR; MOUSE; NERVE CELL; NEUROLOGIC EXAMINATION; NONHUMAN; ORTHOLOGY; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SPIRAL GANGLION; TBC 1D 24 GENE; VESTIBULOCOCHLEAR NERVE DISEASE; YOUNG ADULT; CHROMOSOME 16P; CONSANGUINITY; DISEASE SEVERITY; EXON; GENE DELETION; GENE FREQUENCY; GENE LOCUS; GENETIC LINKAGE; HETEROZYGOTE; HOMOZYGOSITY; MISSENSE MUTATION; NONSYNDROMIC DEAFNESS; TBC1D24 GENE;

EID: 84891818956     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.12.004     Document Type: Article

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