Maternal chromosome 4 heterodisomy/isodisomy and Bβ chain Trp323X mutation resulting in severe hypodysfibrinogenaemia

Thrombosis and Haemostasis

Volumn 108, Issue 4, 2012, Pages 654-661

  Ding, Qiulan ^a   Ouyang, Qi ^b,c   Xi, Xiaodong ^b   Wang, Xuefeng ^a   Shen, Yiping ^a,d   Wang, Hongli ^b  

^a SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b Shanghai Institute of Hematology   (China)

^c EYE AND ENT HOSPITAL OF FUDAN UNIVERSITY   (China)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Fibrinogen fibrin; Gene mutations; Haemostasis; Thrombosis

Indexed keywords

ANTITHROMBIN; BATROXOBIN; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 7; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; FIBRINOGEN; MICROSATELLITE DNA; PROTEIN C; PROTEIN S; PROTHROMBIN;

ANEMIA; ARTICLE; BLEEDING DISORDER; BLOOD CLOTTING TEST; BLOOD TRANSFUSION; CASE REPORT; CELL INFILTRATION; CHILD; CHROMOSOME 4; CONTROLLED STUDY; DNA SEQUENCE; DYSFIBRINOGENEMIA; FIBRINOGEN B BETA GENE; GENE; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENOTYPING TECHNIQUE; HETEROZYGOSITY; HUMAN; HYPODYSFIBRINOGENEMIA; INTESTINE NECROSIS; JEJUNOSTOMY; KARYOTYPING; LAPAROTOMY; LYMPH NODE HYPERPLASIA; MALE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; POLYMERASE CHAIN REACTION; POLYMORPHIC LOCUS; PRIORITY JOURNAL; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBIN TIME; TURBIDIMETRY; UNIPARENTAL DISOMY; VEIN THROMBOSIS; WESTERN BLOTTING;

AFIBRINOGENEMIA; BASE SEQUENCE; CHILD; CHROMOSOMES, HUMAN, PAIR 4; CODON, NONSENSE; DNA MUTATIONAL ANALYSIS; FEMALE; FIBRINOGEN; HOMOZYGOTE; HUMANS; MALE; MICROSATELLITE REPEATS; PEDIGREE; UNIPARENTAL DISOMY;

EID: 84867272398     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH12-02-0088     Document Type: Article

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