Factor XIII deficiency: New nonsense and deletion mutations in the human factor XIIIA gene

Haematologica

Volumn 90, Issue 12, 2005, Pages 1718-1720

  Anwar, Rashida ^a,b   Gallivan, Louise ^a   Richards, Michael ^b   Khair, Kate ^c   Wright, Michael ^d   Minford, Adrian ^e  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^e ST LUKE S HOSPITAL   (United Kingdom)

Author keywords

Deletion; Factor XIII deficiency; Nonsense mutation

Indexed keywords

BLOOD CLOTTING FACTOR 13A; NUCLEOTIDE;

ADOLESCENT; ADULT; ARTICLE; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CHILD; CLINICAL ARTICLE; EXON; FAMILY; FEMALE; GENE DELETION; HUMAN; MALE; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; CODON; CODON, NONSENSE; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; GENOTYPE; HUMANS; MALE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 29144522948     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

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