Two novel mutations in severe factor VII deficiency

British Journal of Haematology

Volumn 126, Issue 1, 2004, Pages 105-110

  Gomez, Keith ^a   Laffan, Michael A ^b   Kemball Cook, Geoffrey ^a   Pasi, John ^c   Layton, Mark ^b   Singer, Jack D ^d   Tuddenham, Edward G D ^a   McVey, John H ^a,b  

^a MRC CLINICAL SCIENCES CENTRE   (United Kingdom)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

^c QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^d CROMWELL HOSPITAL   (United Kingdom)

Author keywords

Factor VII deficiency; Mutation; Prenatal diagnosis

Indexed keywords

AMINO ACID; GLYCINE; MUTANT PROTEIN; SERINE PROTEINASE;

ARTICLE; BLOOD CLOTTING FACTOR 7 DEFICIENCY; EXON; FEMALE; GENE DELETION; GENE SEQUENCE; GENETIC CODE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; MALE; MISSENSE MUTATION; MOLECULAR MODEL; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN SECRETION; PROTEIN STABILITY;

ANIMALS; BASE SEQUENCE; CHILD, PRESCHOOL; DATABASES, GENETIC; FACTOR VII; FACTOR VII DEFICIENCY; FEMALE; GENE DELETION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; POLYMORPHISM, GENETIC; SEQUENCE ANALYSIS, DNA;

EID: 3042793781     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2141.2004.04997.x     Document Type: Article

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