Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree

Haemophilia

Volumn 11, Issue 1, 2005, Pages 31-37

  Wang, Wen Bin ^a   Fu, Qi Hua ^a,b   Zhou, R F ^a   Wu, W M ^a   Ding, Q L ^a   Hu, Y Q ^a   Wang, X F ^a   Wang, Hong Li ^a   Wang, Z Y ^a  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b BLOOD CENTER OF ZHEJIANG PROVINCE   (China)

Author keywords

Deficiency; Factor X; Gene; Mutation; Splice site

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA; MESSENGER RNA; PROTHROMBIN COMPLEX;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BLEEDING DISORDER; BLOOD CLOTTING FACTOR 10 DEFICIENCY; CASE REPORT; CELL LYSATE; CELL STRAIN HEK293; CHINESE; DNA TRANSFECTION; ENZYME LINKED IMMUNOSORBENT ASSAY; FEMALE; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; IN VIVO STUDY; MENSTRUATION; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PARTIAL THROMBOPLASTIN TIME; PEDIGREE ANALYSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTHROMBIN TIME; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; SEQUENCE ANALYSIS; SITE DIRECTED MUTAGENESIS; WILD TYPE;

ADOLESCENT; ALTERNATIVE SPLICING; ANIMALS; AUTOANTIGENS; CELL LINE; CHINA; CRICETINAE; FACTOR X; FACTOR X DEFICIENCY; FEMALE; GENES, RECESSIVE; HETEROZYGOTE; HUMANS; MUTAGENESIS, SITE-DIRECTED; MUTATION; PARTIAL THROMBOPLASTIN TIME; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSFECTION;

EID: 13844255201     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2005.01063.x     Document Type: Article

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