Identification of a novel splicing mutation in the fibrinogen Aα chain gene leading to hypofibrinogenaemia in a Chinese pedigree

Haemophilia

Volumn 15, Issue 1, 2009, Pages 394-397

  Chen, H ^a   Wang, X ^a   Su, X ^b   Yang, F ^b   Lu, Y ^a   Xu, G ^a   Dai, J ^a   Ding, Q ^a   Xi, X ^b   Wang, Hongli ^b,c  

^a SHANGHAI SECOND MEDICAL UNIVERSITY   (China)

^b Shanghai Institute of Hematology   (China)

^c NONE   (China)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRINOGEN; FIBRINOGEN A ALPHA CHAIN; FIBRINOGEN ALPHA; MESSENGER RNA; RNA; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD CLOTTING TEST; CELL STRAIN HEK293; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; ECTOPIC PREGNANCY; FEMALE; FIBRINOGEN BLOOD LEVEL; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; HYPOFIBRINOGENEMIA; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SPLICING DEFECT; THROMBIN TIME;

ADULT; BASE SEQUENCE; BLOOD COAGULATION DISORDERS, INHERITED; FEMALE; FIBRINOGEN; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; RNA SPLICING;

EID: 63049109307     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2008.01835.x     Document Type: Article

References (5)

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5. Cartegni L, Chew SL, Krainer AR. Listening to silence and understand nonsense: Exonic mutations that affect splicing. Nat Rev Genet 2002; 3: 285-98.