Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: Molecular confirmation of a founder effect

Annals of Hematology

Volumn 89, Issue 5, 2010, Pages 499-504

  Louhichi, Nacim ^a   Medhaffar, Moez ^b   Hadjsalem, Ikhlass ^a   Mkaouar Rebai, Emna ^a   Fendri Kriaa, Nourhene ^a   Kanoun, Houda ^a   Yaïch, Firas ^a   Souissi, Tawfik ^b   Elloumi, Moez ^b   Fakhfakh, Faiza ^a  

^a UNIVERSITY OF SFAX   (Tunisia)

^b Service of Hematology C H U   (Tunisia)

Author keywords

C.1226G > A; C.869 insC; Factor XIII deficiency; Founder effect; Mutations; Polymorphisms

Indexed keywords

GENE PRODUCT; PROTEIN HUMF13A01; PROTEIN HUMF13A02; UNCLASSIFIED DRUG; BLOOD CLOTTING FACTOR 13; BLOOD CLOTTING FACTOR 13A; BLOOD CLOTTING FACTOR 13B; MICROSATELLITE DNA;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; ENZYME ACTIVITY; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC POLYMORPHISM; HEMOPHILIA A; HUMAN; INTRON; MALE; MICROSATELLITE MARKER; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; SEQUENCE ALIGNMENT; TUNISIA; AMINO ACID SEQUENCE; BIOSYNTHESIS; BLOOD CLOTTING FACTOR 13 DEFICIENCY; COMPARATIVE STUDY; FOUNDER EFFECT; FRAMESHIFT MUTATION; GENETICS; HAPLOTYPE; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE;

AMINO ACID SEQUENCE; BASE SEQUENCE; FACTOR XIII; FACTOR XIII DEFICIENCY; FACTOR XIIIA; FEMALE; FOUNDER EFFECT; FRAMESHIFT MUTATION; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; PEDIGREE; TUNISIA;

EID: 77950565676     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0863-y     Document Type: Article

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