Haplotype-based approach for noninvasive prenatal tests of Duchenne muscular dystrophy using cell-free fetal DNA in maternal plasma

Genetics in Medicine

Volumn 17, Issue 11, 2015, Pages 889-896

  Xu, Yan ^a,b   Li, Xuchao ^c   Ge, Hui Juan ^c   Xiao, Bing ^a,b   Zhang, Yan Yan ^c   Ying, Xiao Min ^a,b   Pan, Xiao Yu ^c   Wang, Lei ^a   Xie, Wei Wei ^c   Ni, Lin ^a,b   Chen, Sheng Pei ^c   Jiang, Wen Ting ^a,b   Liu, Ping ^c   Ye, Hui ^a,b   Cao, Ying ^a,b   Zhang, Jing Min ^a,b   Liu, Yu ^a,b   Yang, Zu Jing ^a   Chen, Ying Wei ^a,b   Chen, Fang ^c,d   Jiang, Hui ^c,e   Ji, Xing ^a,b   more..

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Institute of Pediatric Research   (China)

^c BGI SHENZHEN   (China)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

Cell free fetal DNA; cell free fetal nucleic acids; Duchenne muscular dystrophy; noninvasive prenatal test; prenatal diagnosis

Indexed keywords

GENOMIC DNA; DMD PROTEIN, HUMAN; DYSTROPHIN;

AMNIOCENTESIS; ARTICLE; CELL FREE SYSTEM; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DNA LIBRARY; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; FETUS; FETUS CELL; GENE FREQUENCY; GENETIC VARIABILITY; GERMLINE MUTATION; HAPLOTYPE; HUMAN; MATERNAL PLASMA; PRENATAL DIAGNOSIS; PRENATAL SCREENING; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME; GENETIC SCREENING; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PREGNANCY; PROCEDURES; REPRODUCIBILITY; X CHROMOSOMAL INHERITANCE;

AMNIOCENTESIS; DYSTROPHIN; FEMALE; GENES, X-LINKED; GENETIC TESTING; GENOTYPE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SEQUENCE ANALYSIS, DNA;

EID: 84931072285     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.207     Document Type: Article

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