Further reading

Karadimitris A, Luzzatto L. (2001) The cellular pathogenesis of paroxysmal nocturnal hemoglobinuria. Leukemia, 15, 1148-1452.

Luzzatto L, Bessler M. (1996) The dual pathogenesis of paroxysmal nocturnal hemoglobinuria. Seminars in Hematology, 3, 101-110.

Takeda J, Miyata T, Kawagoe K etal. (1993) Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell, 73, 703-711.

Fanconi's anemia

Alter B, Young NS. (1998) The bone marrow failure syndromes. In: Nathan DG, Orkin SH (eds). Nathan and Oski's Hematology of Infancy and Childhood, 5th edn. Philadelphia: W.B. Saunders, pp. 237-335.

Fanconi Anaemia/Breast Cancer Consortium. (1996) Positional cloning of the Fanconi anaemia group A gene. Nature Genetics, 14, 324-328.

Foe JRLT, Roimans MA, Bosnoyan-Collins L et al. (1996) Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA. Nature Genetics, 14, 320-323.

Howlett NG, Taniguchi T, Olson S et al. (2002) Biallelic inactivation of BRCA2 in Fanconi anemia. Science, 26, 606-609.

Joenje H, Patel KJ. (2001) The emerging genetic and molecular basis of Fanconi anaemia. Nature Reviews in Genetics, 2, 446-459.

Levran O, Erlich T, Magdalena N et al. (1997) Sequence variation in the Fanconi anemia gene FAA. Proceedings of the National Academy of Sciences of the United States of America, 94, 13051-13056.

Strathdee CA, Gavish H, Shannon WR et al. (1992) Cloning of cDNAs for Fanconi's anaemia by functional complementation. Nature, 356, 763-767.

Dyskeratosis congenita

Collins K, Mitchell JR. (2002) Telomerase in the human organism. Oncogene, 21, 564-579.

Heiss NS, Knight SW, Vulliamy JT et al. (1998) X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nature Genetics, 19, 32-38.

Mitchell JR, Wood E, Collins K. (1999) A telomerase component is defective in the human disease dyskeratosis congenita. Nature, 402, 551-555.

Vulliamy T, Marrone A, Goldman F et al. (2001) The RNA component of telomerase is mutated in autosomal dominant dyskeratosis con-genita. Nature, 413, 432-435.

Blackfan-Diamond anemia

Alter B, Young NS. (1998) The bone marrow failure syndromes. In: Nathan DG, Orkin SH (eds). Nathan and Oski's Hematology of Infancy and Childhood, 5th edn. Philadelphia: W.B. Saunders, pp. 237-335.

Draptchinskaia N, Gustavsson P, Andersson B et al. (1999) The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nature Genetics, 21, 169-175.

Willig T-N, Draptchinskaia N, Dianzani I et al. (1999) Mutations in ribosomal protein S19 gene and Diamond Blackfan anemia: wide variations in phenotypic expression. Blood, 94, 4294-4306.

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