Noninvasive prenatal diagnosis of single-gene disorders by use of droplet digital PCR

Clinical Chemistry

Volumn 64, Issue 2, 2018, Pages 336-345

  Camunas Soler, Joan ^a   Lee, Hojae ^a   Hudgins, Louanne ^b   Hintz, Susan R ^c   Blumenfeld, Yair J ^b   El Sayed, Yasser Y ^b   Quake, Stephen R ^a,b,d  

^a Stanford University   (United States)

^b STANFORD UNIVERSITY   (United States)

^c STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d CHAN ZUCKERBERG BIOHUB   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG; CELL FREE NUCLEIC ACID;

ACETYLCHOLINE RECEPTOR DEFICIENCY; ARTICLE; ASSAY; AUTOSOMAL RECESSIVE DISORDER; BETA THALASSEMIA; BLOOD SAMPLING; CLINICAL ARTICLE; CLINICAL PROTOCOL; CONTROLLED STUDY; CYSTIC FIBROSIS; DFNB1 NONSYNDROMIC HEARING LOSS; DROPLET DIGITAL POLYMERASE CHAIN REACTION; FEMALE; GENE MUTATION; GENETIC DISORDER; HEARING IMPAIRMENT; HEMOPHILIA; HUMAN; MATERNAL PLASMA; METABOLIC DISORDER; MEVALONATE KINASE DEFICIENCY; ORNITHINE TRANSCARBAMYLASE DEFICIENCY; PRENATAL DIAGNOSIS; PROTEIN DEFICIENCY; SINGLE NUCLEOTIDE POLYMORPHISM; TAQMAN ASSAY; X CHROMOSOME LINKED DISORDER; ADULT; ALLELE; BLOOD; FETUS; GENETICS; HETEROZYGOTE; METABOLISM; MUTATION; POLYMERASE CHAIN REACTION; PREGNANCY; PROCEDURES; RECESSIVE GENE; REPRODUCIBILITY;

ADULT; ALLELES; CELL-FREE NUCLEIC ACIDS; CLINICAL PROTOCOLS; FEMALE; FETUS; GENES, RECESSIVE; GENETIC DISEASES, INBORN; GENETIC DISEASES, X-LINKED; HETEROZYGOTE; HUMANS; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS;

EID: 85041181174     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2017.278101     Document Type: Article

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