Gross deletions/duplications in PROS1 are relatively common in point mutation-negative hereditary protein S deficiency

Human Genetics

Volumn 126, Issue 3, 2009, Pages 449-456

  Pintao, Maria C ^a   Garcia, A A ^a   Borgel, D ^b,c   Alhene Gelas, M ^c,d   Spek, C A ^e   de Visser, M C H ^a   Gandrille, S ^c,d,f   Reitsma, Pieter H ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c INSERM   (France)

^d HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN PROS1; PROTEIN S; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA SEQUENCE; EXON; GENE DELETION; GENE DUPLICATION; GENE IDENTIFICATION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INTRON; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; NUCLEOTIDE SEQUENCE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN S DEFICIENCY;

BLOOD PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FAMILY HEALTH; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; MALE; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN S; PROTEIN S DEFICIENCY;

EID: 70349338885     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-009-0687-9     Document Type: Article

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