Mutation in Brief
Free Access
Five novel factor IX mutations in unrelated hemophilia B patients
Dezso David,
Isabel Moreira,
Sara Morais,
Graça De Deus,
Corresponding Author
Dezso David
Dept. de Genética Humana, Instituto National de Saúde, Lisboa, Portugal
Dep. de Genética Humana, Instituto Nacional de Saúde, Av. Padre Cruz, P-1699 Lisboa Codex, PortugalSearch for more papers by this authorIsabel Moreira
Dept. de Genética Humana, Instituto National de Saúde, Lisboa, Portugal
Search for more papers by this authorSara Morais
Serviço de lmuno-Hemoterapia, Hosp. S. António, Porto, Portugal
Search for more papers by this authorGraça De Deus
Serviço de Imuno-Hemoterapia, Hosp. S. José, Lisboa, Portugal
Search for more papers by this authorDezso David,
Isabel Moreira,
Sara Morais,
Graça De Deus,
Corresponding Author
Dezso David
Dept. de Genética Humana, Instituto National de Saúde, Lisboa, Portugal
Dep. de Genética Humana, Instituto Nacional de Saúde, Av. Padre Cruz, P-1699 Lisboa Codex, PortugalSearch for more papers by this authorIsabel Moreira
Dept. de Genética Humana, Instituto National de Saúde, Lisboa, Portugal
Search for more papers by this authorSara Morais
Serviço de lmuno-Hemoterapia, Hosp. S. António, Porto, Portugal
Search for more papers by this authorGraça De Deus
Serviço de Imuno-Hemoterapia, Hosp. S. José, Lisboa, Portugal
Search for more papers by this author
References
-
Bunge S,
Fuchs S,
Gal, A
(1996)
Simple and nonisotopic methods to detect unknown gene mutations in nucleic acids. In
KW Adolph (ed):
Methods in Molecular Genetics
New York:
Academic Press.
10.1016/S1067-2389(96)80036-7 Google Scholar
- Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156–169.
- Cooper DN, Krawczak M (1993) Single base-pair substitutions in human gene mRNA splice junctions and their phenotypic consequences. In: Human gene mutations Oxford BIOS Scientific, pp 234–260.
- David D, Rosa HAV, Pemberton S, Diniz MJ, Campos M, Lavinha J (1993) Single-strand conformation polymorphism (SSCP) analysis of the molecular pathology of hemophilia B. Hum Mutat 2: 355–361.
- David D, Moreira I, Lalloz MRA, Rosa HAV, Schwaab R, Morais S, Diniz MJ, de Deus G, Campos M, Johnson Lavinha D, Tuddenham EGD (1994) Analysis of the essential sequences of the factor VIII gene in twelve haemophilia A patients by single-stranded conformation polymorphism. Blood Coag Fibrinol 5: 257–264.
- David D, Tavares A, Lavinha J (1995) Characterization of a splicing mutation in the factor VIII gene at the RNA level. Hum Genet 95: 109–111.
- Fanen P, Ghanem N, Vidaud M, Besmond C, Martin J, Costes B, Plassa F, Goossens M (1992) Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions. Genomics 13: 770–776.
- Giannelli F (1989) Factor IX. In EGD Tuddenham (ed): Baillière's Clinical Haematology, Vol. 2. London: Baillière & Tindall, pp 821–848.
- Rosenthal A, Jouet M, Kenwrick S (1992) Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nature Genet 2: 107–112.
- Yoshitake S, Schach BG, Foster DC, Davie EW, Kurachi K (1985) Nucleotide sequence of the gene for human factor IX (antihemophilic factor B). Biochemistry 24: 3736–3750.
