Biology of Disease

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(a) Which of the bloods has the greater osmotic fragility?
(b) Which of the two specimens was from the patient?


  1. Gallstones are hard lumps of cholesterol, bile pigments and calcium
    salts. Explain why patients with hereditary spherocytosis and
    elliptocytosis show an increase in their production of gallstones. You
    may also find it useful to refer to Chapter 11.


Further Reading


Chinnery, PF and Turnbull, DM (2001) Epidemiology and treatment of mito-
chondrial disorders. Am. J. Med. Genet.106: 94–101.


Cronshaw, JM and Matunis, MJ (2004) The nuclear pore complex: disease
associations and functional correlations. Trends Endocrinol. Metab. 15:
34–39.


Delaunay, J (2002) Molecular basis of red cell membrane disorders. Acta
Haematol.108: 210–218.


DiMauro, S (2004) Mitochondrial diseases. Biochim. Biophys. Acta1658:
80–88.


DiMauro, S and Schon, EA (2001) Mitochondrial DNA mutations in human
disease. Am. J. Med. Genet.106: 18–26.


Emery, AEH (2002) Muscular dystrophy into the new millennium.
Neuromuscul. Disord.12: 343–349.


Fahrenkrog, B, Köser, J and Aebi, U (2004) The nuclear pore complex: a jack of
all trades? Trends Biochem. Sci.29: 175–182.


Futerman, AH, Sussman, JL, Horowitz, M, Silman, I and Zimran, A (2004)
New directions in the treatment of Gaucher disease. Trends Pharmacol. Sci.
25: 147–151.


Gabriel, SE, Brigman, KN, Koller, BH, Boucher, RC and Stutts, MJ (1994) Cystic
fibrosis heterozygote resistance to cholera toxin in the cystic fibrosis mouse
model.Science266: 107–109.


Gieselmann, V, Matzner, U, Klein, D, Mansson, JE, D’Hooge, R, DeDeyn,
PD, Rauch, RL, Hartmann, D and Harzer, K (2003) Gene therapy: Prospects
for glycolipid storage diseases. Philos. Trans. R. Soc. Lond. B. Biol. Sci.358:
921–925.


Goldfarb, DS, Corbett, AH, Mason, DA, Harreman, MT and Adam, SA (2004)
Importin @: a multipurpose nuclear-transport receptor. Trends Cell Biol.14:
505–514.


FURTHER READING

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