Using next-generation sequencing as a genetic diagnostic tool in rare autosomal recessive neurologic Mendelian disorders

Neurobiology of Aging

Volumn 34, Issue 10, 2013, Pages 2442.e11-2442.e17

  Chen, Zhao ^a   Wang, Jun ling ^a   Tang, Bei sha ^a,b   Sun, Zhan fang ^a   Shi, Yu ting ^a   Shen, Lu ^a   Lei, Li fang ^b   Wei, Xiao ming ^c   Xiao, Jing jing ^c   Hu, Zheng mao ^b   Pan, Qian ^b   Xia, Kun ^b   Zhang, Qing yan ^c   Dai, Mei zhi ^c   Liu, Yu ^a   Ashizawa, Tetsuo ^d   Jiang, Hong ^a,b  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c BGI SHENZHEN   (China)

^d UNIVERSITY OF FLORIDA   (United States)

Author keywords

Autosomal recessive; Exome sequencing; Genetic diagnostic strategy; Neurologic Mendelian disorders; Targeted gene sequencing

Indexed keywords

ACANTHOCYTOSIS; ADOLESCENT; ARTICLE; ATAXIA; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE NEUROLOGIC MENDELIAN DISORDER; CHARLEVOIX SAGUENAY SPASTIC ATAXIA; CHILD; CHINESE; CHOREA; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; EXOME; FEMALE; GENE SEQUENCE; GENETIC HETEROGENEITY; HUMAN; INFANT; JOUBERT SYNDROME; MALE; NEMALINE MYOPATHY; NEUROLOGIC DISEASE; NEXT GENERATION SEQUENCING; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; TELANGIECTASIA;

EID: 84879885081     PISSN: 01974580     EISSN: 15581497     Source Type: Journal    
DOI: 10.1016/j.neurobiolaging.2013.04.029     Document Type: Article

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