A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream

Blood Coagulation and Fibrinolysis

Volumn 20, Issue 5, 2009, Pages 385-387

  Robert Ebadi, H ^a   De Moerloose, P ^a,d   Khorassani, M El ^b   Khattab, M El ^b   Neerman Arbez, M ^a,c  

^a UNIVERSITY HOSPITAL   (Switzerland)

^b University Hospital   (Morocco)

^c UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^d GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Afibrinogenemia; Bleeding disorder; Fibrinogen; Mutation

Indexed keywords

AFIBRINOGENEMIA; ARTICLE; CASE REPORT; EXON; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENETIC ANALYSIS; HOMOZYGOSITY; HUMAN; PARTIAL THROMBOPLASTIN TIME; PRIORITY JOURNAL; PROTHROMBIN TIME; STOP CODON;

AFIBRINOGENEMIA; CODON, NONSENSE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FRAMESHIFT MUTATION; HEMORRHAGE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; ITALY; MOROCCO; SEQUENCE DELETION;

EID: 68149114496     PISSN: 09575235     EISSN: None     Source Type: Journal    
DOI: 10.1097/MBC.0b013e328329f2a0     Document Type: Article

References (5)

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