Molecular analysis of the genotype-phenotype relationship in factor X deficiency

Human Genetics

Volumn 106, Issue 2, 2000, Pages 249-257

  Millar, David S ^a   Elliston, Lyn ^a   Deex, Pippa ^a   Krawczak, Michael ^a   Wacey, Adam I ^b   Reynaud, Jacqueline ^c   Nieuwenhuis, H Karel ^d   Bolton Maggs, Paula ^e   Mannucci, Pier M ^f   Reverter, Joan Carles ^g   Cachia, Phillip ^h   Pasi, K John ⁱ   Layton, D Mark ^j   Cooper, David N ^a  

^a CARDIFF UNIVERSITY   (United Kingdom)

^b THROMBOSIS RESEARCH INSTITUTE   (United Kingdom)

^c HÔPITAL NORD   (France)

^d UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^e ALDER HEY CHILDREN S HOSPITAL   (United Kingdom)

^f Centro Emofilia e Trombosi Angelo Bianchi Bonomi   (Italy)

^g HOSPITAL CLÍNIC   (Spain)

^h UNIVERSITY OF DUNDEE   (United Kingdom)

ⁱ ROYAL FREE HOSPITAL   (United Kingdom)

^j KING S COLLEGE HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA FLANKING REGION; DNA SEQUENCE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; INHERITANCE; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; PHENOTYPE; PRIORITY JOURNAL; REPORTER GENE;

BASE SEQUENCE; DNA PRIMERS; FACTOR X DEFICIENCY; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; POLYMORPHISM, GENETIC; RNA SPLICING; SEQUENCE DELETION;

EID: 18844480017     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390051035     Document Type: Article

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