Detection of truncated dystrophin lacking the C-terminal domain in a Chinese pedigree by next-generation sequencing

Gene

Volumn 499, Issue 1, 2012, Pages 139-142

  Xie, Shuqi ^a   Lan, Zhangzhang ^a   Qu, Ning ^a   Wei, Xiaoming ^a   Yu, Ping ^b   Zhu, Qian ^a   Yang, Guanghui ^a   Wang, Jinming ^a   Shi, Quan ^a   Wang, Wei ^a   Yang, Ling ^a   Yi, Xin ^a  

^a BGI SHENZHEN   (China)

^b ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Bioinformatics; Duchenne Muscular Dystrophy (DMD); Dystrophin (DMD) gene; Next generation sequencing

Indexed keywords

DYSTROPHIN;

ARTICLE; BIOINFORMATICS; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; DIAGNOSTIC TEST ACCURACY STUDY; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEMALE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; MALE; NEXT GENERATION SEQUENCING; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN DOMAIN; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FAMILY; FEMALE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; PEDIGREE; PROTEIN ISOFORMS; PROTEIN STRUCTURE, TERTIARY; REVIEW LITERATURE AS TOPIC;

EID: 84862800309     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.03.029     Document Type: Article

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