Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism

Prenatal Diagnosis

Volumn 23, Issue 6, 2003, Pages 457-460

  Camire, Rodney ^a   Denchy, Ruth Ann ^b   Day III, George A ^a   Lanzano, Patricia ^b   Sheth, Sujit ^b   Brown, Stephen ^b,c  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b College of Physicians and Surgeons ^*  (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Coagulation; CVS; Factor X; Linkage; SNP

Indexed keywords

BLOOD CLOTTING FACTOR 10;

ADULT; ALLELE; AMNIOCENTESIS; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; DNA SEQUENCE; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC LINKAGE; HUMAN; MULTIGENE FAMILY; NUCLEOTIDE SEQUENCE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHORIONIC VILLI SAMPLING; DNA; DNA MUTATIONAL ANALYSIS; FACTOR X DEFICIENCY; FEMALE; FETAL BLOOD; HETEROZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; PREGNANCY TRIMESTER, FIRST;

EID: 0038799915     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.617     Document Type: Article

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