PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associations

Human Mutation

Volumn 29, Issue 7, 2008, Pages 939-947

  Ten Kate, Min Ki ^a   Platteel, Mathieu ^a   Mulder, Rene ^a   Terpstra, Peter ^a   Nicolaes, Gerry A F ^b   Reitsma, Pieter H ^c   Van Der Steege, Gerrit ^a   Van Der Meer, Jan ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

MLPA; PROS1; Protein S; Protein S deficiency; Thrombosis; Venous thromboembolism

Indexed keywords

ALLELE; ARTICLE; DISEASE PREDISPOSITION; GENE; GENE AMPLIFICATION; GENE DELETION; GENE INSERTION; GENE MUTATION; GENE SEGREGATION; GENETIC DIFFERENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MONOGENIC DISORDER; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROS1 GENE; PROTEIN S DEFICIENCY; PROTEIN S DEFICIENCY TYPE 1; PROTEIN S DEFICIENCY TYPE 3; RISK ASSESSMENT; VEIN THROMBOSIS;

ADULT; AGED; BLOOD PROTEINS; FAMILY; FEMALE; GENOTYPE; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; PROTEIN S DEFICIENCY; VENOUS THROMBOSIS;

EID: 46749102183     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20687     Document Type: Article

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