Identification of a novel mutation combination in factor XIII deficiency: Genetic update to the first reported case in the United States

International Journal of Hematology

Volumn 83, Issue 2, 2006, Pages 144-146

  Halverstadt, Amy ^a   Walsh, Sean ^a   Roth, Stephen M ^a   Ferrell, Robert E ^b   Hagberg, James M ^a  

^a UNIVERSITY OF MARYLAND   (United States)

^b UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

FXIII; Genetic disease; Genetics; Missense mutation; Splicing mutation

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 13A; BLOOD CLOTTING FACTOR 13B; CYSTEINE; MESSENGER RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 13 DEFICIENCY; CASE REPORT; DNA FLANKING REGION; EXON; GENE LOCUS; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; PROTEIN CONFORMATION; PROTEIN FOLDING; RNA TRANSCRIPTION; UNITED STATES; ADULT; CHILD; FAMILY HEALTH; FEMALE; GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; RNA SPLICING;

ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FACTOR XIII DEFICIENCY; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; RNA SPLICE SITES; UNITED STATES;

EID: 33646851593     PISSN: 09255710     EISSN: None     Source Type: Journal    
DOI: 10.1532/IJH97.NA0507     Document Type: Article

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