Integration of targeted sequencing and NIPT into clinical practice in a Chinese family with maple syrup urine disease

Genetics in Medicine

Volumn 16, Issue 8, 2014, Pages 594-600

  You, Yanqin ^a   Sun, Yan ^b,c,d   Li, Xuchao ^b,d,e   Li, Yali ^a   Wei, Xiaoming ^b,c,d   Chen, Fang ^b,d,e   Ge, Huijuan ^b,d,e   Lan, Zhangzhang ^b,c,d   Zhu, Qian ^b,c,d   Tang, Ying ^f   Wang, Shujuan ^a   Gao, Ya ^b,c,d,g   Jiang, Fuman ^b,c,d,g   Song, Jiaping ^b,c,d   Shi, Quan ^b,c,d   Zhu, Xuan ^f   Mu, Feng ^f   Dong, Wei ^f   Gao, Vince ^b,c,d   Jiang, Hui ^b,c,g,h   Yi, Xin ^b   Wang, Wei ^b,d,g,h   Gao, Zhiying ^a   more..

^a CHINESE PLA GENERAL HOSPITAL   (China)

^b BGI SHENZHEN   (China)

^c BGI Research   (China)

^d Shenzhen Municipal Key Laboratory of Birth Defects Screening and Engineering   (China)

^e Key Laboratory of Reproductive Medicine of Guangdong Province   (China)

^f China   (China)

^g Shenzhen Key Laboratory of Genomics   (China)

^h Department of Infectious Diseases   (China)

Author keywords

massively parallel sequencing; MSUD; noninvasive prenatal testing; single gene disorders; target gene capture

Indexed keywords

BCKDHA PROTEIN; PROTEIN; UNCLASSIFIED DRUG; BRANCHED CHAIN AMINO ACID; DNA;

ALLELE; ARTICLE; CASE REPORT; CHINESE; CHROMOSOME 19; CLINICAL PRACTICE; DNA DETERMINATION; EXON; FAMILY; FEMALE; FETUS; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC COUNSELING; GENETIC RECOMBINATION; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE; HUMAN; INDEL MUTATION; MALE; MAPLE SYRUP URINE DISEASE; MASSIVELY PARALLEL SEQUENCING; MOLECULAR MODEL; NON INVASIVE PROCEDURE; NONINVASIVE PRENATAL TESTING; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; ASIAN CONTINENTAL ANCESTRY GROUP; CHEMISTRY; DNA SEQUENCE; GENETICS; MISSENSE MUTATION; PREGNANCY; CONTROLLED STUDY; DNA EXTRACTION; FIRST TRIMESTER PREGNANCY; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC SCREENING; HIDDEN MARKOV MODEL; INFANT; NON INVASIVE PRENATAL TESTING; PRENATAL SCREENING; PROTEIN FUNCTION; PROTEIN SECONDARY STRUCTURE; REAL TIME POLYMERASE CHAIN REACTION;

AMINO ACIDS, BRANCHED-CHAIN; ASIAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MALE; MAPLE SYRUP URINE DISEASE; MUTATION, MISSENSE; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

ACER;

EID: 84905571610     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2013.197     Document Type: Article

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