Molecular characterization of 11 novel mutations in patients with heterozygous and homozygous FV deficiency

Haemophilia

Volumn 16, Issue 6, 2010, Pages 937-942

  Cutler, J A ^a   Patel, R ^a   Rangarajan, S ^a   Tait, R C ^b   Mitchell, M J ^a  

^a ST THOMAS HOSPITAL   (United Kingdom)

^b GLASGOW ROYAL INFIRMARY   (United Kingdom)

Author keywords

F5; FV deficiency; Mutation

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BLEEDING TENDENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; CLINICAL ARTICLE; DNA POLYMORPHISM; GENE DUPLICATION; GENE MUTATION; GENETIC SCREENING; GENETIC VARIABILITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPLICING DEFECT;

ADOLESCENT; ADULT; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; FACTOR V; FACTOR V DEFICIENCY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MIDDLE AGED; MUTATION; MUTATION, MISSENSE; PHENOTYPE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 78049276291     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2010.02330.x     Document Type: Article

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