Two novel and one recurrent missense mutation in the factor XIII a gene in two Dutch patients with factor XIII deficiency

British Journal of Haematology

Volumn 112, Issue 2, 2001, Pages 513-518

  Gomez Garcia E B ^a   Poort, S R ^b   Stibbe, J ^a   Sturk, A ^b   Schaap, M C L ^b   Kappers, M ^a   Bertina, R M ^b  

^a ERASMUS MEDICAL CENTER   (Netherlands)

^b LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

A subunit; Deficiency; Factor XIII; Point mutations

Indexed keywords

BLOOD CLOTTING FACTOR 13 CONCENTRATE; BLOOD CLOTTING FACTOR 13A; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE;

ADULT; ALLELE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; EXON; FEMALE; HETEROZYGOSITY; HUMAN; INTRON; MISSENSE MUTATION; NETHERLANDS; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL;

ADULT; ANIMALS; AUTOANTIGENS; BASE SEQUENCE; CHILD; DNA PRIMERS; FACTOR XIII; FACTOR XIII DEFICIENCY; FEMALE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NETHERLANDS; POINT MUTATION; SEQUENCE ALIGNMENT; SEQUENCE ANALYSIS, DNA;

EID: 0035128618     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.2001.02577.x     Document Type: Article

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