A case of factor XI deficiency caused by compound heterozygous F11 gene mutation

Haemophilia

Volumn 15, Issue 2, 2009, Pages 603-606

  Wang, Jing ^a   Wang, Xeufeng ^a   Dai, Jing ^a   Ding, Qiulan ^a   Fu, Qihua ^a   Wang, Hongli ^a   Shen, Lisong ^a   Li, Dao ^b  

^a SHANGHAI JIAO TONG UNIVERSITY   (China)

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

Author keywords

Deficiency; Factor XI; Gene; Mutation

Indexed keywords

ARGININE; BLOOD CLOTTING FACTOR 11; FRESH FROZEN PLASMA; GENOMIC DNA; GLYCINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING FACTOR 11 DEFICIENCY; BLOOD CLOTTING TEST; CASE REPORT; CHINESE; CROSS REACTION; DNA SEQUENCE; ENZYME LINKED IMMUNOSORBENT ASSAY; EXON; FAMILY HISTORY; FAMILY STUDY; FEMALE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PATHOPHYSIOLOGY; PEDIGREE ANALYSIS; PLASMA TRANSFUSION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTHROMBIN TIME; SEQUENCE ANALYSIS; STOP CODON; THYROID TUMOR; THYROIDECTOMY;

ADULT; DNA MUTATIONAL ANALYSIS; FACTOR XI DEFICIENCY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MUTATION, MISSENSE; PARTIAL THROMBOPLASTIN TIME; PEDIGREE;

EID: 63349086745     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01937.x     Document Type: Article

References (5)

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