Identification of mutations in exon 14 including five novelties in 13 Italian patients with haemophilia A [2]

Haemophilia

Volumn 10, Issue 6, 2004, Pages 744-746

  Acquila, M ^a   Pasino, Mirella ^a   Lanza, T ^a   Molinari, A C ^a   Caprino, D ^a   Bottini, F ^a   Bicocchi, M P ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; BLOOD CLOTTING FACTOR 8; CYTOSINE; DNA; GUANINE; MESSENGER RNA; THYMINE;

AMINO ACID SUBSTITUTION; BLOOD SAMPLING; CHROMOSOME XQ; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DNA EXTRACTION; EXON; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE DELETION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HEMOPHILIA A; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; INFORMED CONSENT; ITALY; LETTER; NONSENSE MUTATION; PATIENT REFERRAL; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA ANALYSIS; SEQUENCE ANALYSIS; STOP CODON;

CODON, NONSENSE; EXONS; FACTOR VIII; FRAMESHIFT MUTATION; HEMOPHILIA A; HUMANS; ITALY; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH;

EID: 11144319310     PISSN: 13518216     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1365-2516.2004.01032.x     Document Type: Letter

References (13)

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