Whole-exome sequencing revealed two novel mutations in Usher syndrome

Gene

Volumn 563, Issue 2, 2015, Pages 215-218

  Koparir, Asuman ^a   Karatas, Omer Faruk ^a,b   Atayoglu, Ali Timucin ^c   Yuksel, Bayram ^d   Sagiroglu, Mahmut Samil ^e   Seven, Mehmet ^a   Ulucan, Hakan ^a   Yuksel, Adnan ^g   Ozen, Mustafa ^a,f,g  

^a ISTANBUL UNIVERSITY   (Turkey)

^b ERZURUM TECHNICAL UNIVERSITY   (Turkey)

^c AMERICAN HOSPITAL   (Turkey)

^d Research Institute for Genetic Engineering and Biotechnology   (Turkey)

^e SCIENTIFIC AND TECHNOLOGICAL RESEARCH COUNCIL OF TURKEY   (Turkey)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g BIRUNI UNIVERSITY   (Turkey)

Author keywords

USH2A; Usher syndrome; Whole exome sequencing

Indexed keywords

PROTEIN; UNCLASSIFIED DRUG; USH2A PROTEIN;

ARTICLE; ATROPHY; BLURRED VISION; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHOROID VASCULARIZATION; COMPUTER MODEL; EXOME; EXON; EYE EXAMINATION; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; LATENT PERIOD; MALE; MYOPIA; OPTIC DISK; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN SECONDARY STRUCTURE; RETINITIS PIGMENTOSA; SCHOOL CHILD; SCOTOMA; SEQUENCE ALIGNMENT; STOP CODON; USHER SYNDROME; GENETIC ASSOCIATION; GENETICS; HEARING IMPAIRMENT; MUTATION; PROCEDURES;

CHILD; GENOME-WIDE ASSOCIATION STUDY; HEARING LOSS; HETEROZYGOTE; HUMANS; MALE; MUTATION; RETINITIS PIGMENTOSA; USHER SYNDROMES;

EID: 84926965463     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2015.03.060     Document Type: Article

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