A novel mutation of IDS gene in a Chinese patient with mucopolysaccharidosis II by next-generation sequencing

Clinica Chimica Acta

Volumn 412, Issue 23-24, 2011, Pages 2340-2342

  Wei, Xiaoming ^a   Jin, Fan ^b   Ye, Yinghui ^b   Xu, Chenming ^b   Qu, Ning ^a   Ju, Xiangchun ^a   Yi, Xin ^a  

^a BGI SHENZHEN   (China)

^b ZHEJIANG UNIVERSITY   (China)

Author keywords

Iduronate 2 sulfatase gene; Mucopolysaccharidosis II; Next generation sequencing; Target sequence capture

Indexed keywords

GENOMIC DNA; IDURONATE 2 SULFATASE;

ARTICLE; CASE CONTROL STUDY; CASE REPORT; CHILD; CHINESE; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUNTER SYNDROME; IDS GENE; IDUA GENE; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

BASE SEQUENCE; CASE-CONTROL STUDIES; CHILD, PRESCHOOL; CHINA; DNA PRIMERS; HUMANS; IDURONATE SULFATASE; MALE; MUCOPOLYSACCHARIDOSIS II; MUTATION; POLYMERASE CHAIN REACTION;

EID: 80053647223     PISSN: 00098981     EISSN: 18733492     Source Type: Journal    
DOI: 10.1016/j.cca.2011.08.031     Document Type: Article

References (12)

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