Noninvasive prenatal diagnosis of Duchenne muscular dystrophy: Comprehensive genetic diagnosis in carrier, proband, and fetus

Clinical Chemistry

Volumn 61, Issue 6, 2015, Pages 829-837

  Yoo, Seong Keun ^a   Lim, Byung Chan ^a,b   Byeun, Jiyoung ^b   Hwang, Hee ^b   Kim, Ki Joong ^b   Hwang, Yong Seung ^b   Lee, JoonHo ^b   Park, Joong Shin ^b   Lee, Yong Sun ^c   Namkung, Junghyun ^c   Park, Jungsun ^c   Lee, Seungbok ^a   Shin, Jong Yeon ^a,c   Seo, Jeong Sun ^a,c,d   Kim, Jong Il ^a,d   Chae, Jong Hee ^a,b,e  

^a Seoul National University   (South Korea)

^b Seoul National University Children's Hospital   (South Korea)

^c Future Technology R and D Division   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

^e Seoul National University Hospital   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

DYSTROPHIN; GENOMIC DNA; ZINC FINGER PROTEIN; DNA;

ALLELE; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHORION VILLUS SAMPLING; COHORT ANALYSIS; CONTROLLED STUDY; DNA LIBRARY; DNA SEQUENCE; DUCHENNE MUSCULAR DYSTROPHY; EXON; FEASIBILITY STUDY; FEMALE; FETUS; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE; HEMIZYGOSITY; HETEROZYGOTE DETECTION; HUMAN; INDEL MUTATION; INHERITANCE; MALE; MATERNAL PLASMA; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NON INVASIVE MEASUREMENT; POINT MUTATION; PRENATAL DIAGNOSIS; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; GENETICS; HETEROZYGOTE; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PREGNANCY; PROCEDURES;

DNA; DYSTROPHIN; FEMALE; HAPLOTYPES; HETEROZYGOTE; HETEROZYGOTE DETECTION; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; SEQUENCE ANALYSIS, DNA;

EID: 84930514580     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2014.236380     Document Type: Article

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