The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Journal of Human Genetics

Volumn 58, Issue 2, 2013, Pages 113-115

  Tsurusaki, Yoshinori ^a   Kobayashi, Yasuko ^b   Hisano, Masataka ^c   Ito, Shuichi ^d   Doi, Hiroshi ^a   Nakashima, Mitsuko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a   Miyake, Noriko ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b GUNMA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c CHIBA CHILDREN'S HOSPITAL   (Japan)

^d NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

CEP290; exome sequencing; INPP5E; Joubert syndrome; molecular diagnosis; TMEM67

Indexed keywords

ALLELE; ANALYZER; ARTICLE; BLOOD SAMPLING; CLINICAL ARTICLE; CONTROLLED STUDY; COST BENEFIT ANALYSIS; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; EXON; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC PROCEDURES; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; INTRON; JOUBERT SYNDROME; JOUBERT SYNDROME AND RELATED DISORDERS; LYMPHOBLASTOID CELL; MOLECULAR DIAGNOSIS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SANGER SEQUENCING; STOP CODON; WHOLE EXOME SEQUENCING;

CEREBELLAR DISEASES; EXOME; EYE ABNORMALITIES; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MAGNETIC RESONANCE IMAGING; MALE; PEDIGREE; RETINA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 84875413453     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2012.117     Document Type: Article

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