A NOVEL MUTATION OF THE ABCD1 GENE IN SERBIAN X-ADRENOLEUKODYSTROPHY
Grkovic S1*, Nikolic R2, Djordjevic M1, Puzigaca Z2, Vujic D1, Ilic P2
*Corresponding Author: Dr. Sanja Grkovic, Department of Pediatrics, Mother and Child Health Care Institute of Serbia, Ljeska 55, 11030 Belgrade, Serbia; Tel.:+38-1641548175; Fax: +38-113108276; E-mail: metlab@ sezampro.yu
page: 65

REFERENCES

 

  1. Moser W, Smith D, Watkins A, Powers J, Moser B. X-linked adrenoleukodystrophy. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Eds. The Metabolic and Molecular Bases of Inherited Disease, 8th ed. New York: McGraw-Hill. 2001;3257-3301.

  2. Lazo O, Contreras M, Hashmi M, Stanley W, Irazu C, Singh I. Peroxisomal lignoceroyl-CoA ligase deficiency in childhood adrenoleukodystrophy and adrenomyelo neuropathy. Proc Natl Acad Sci USA 1988; 85(5): 7647-7651.

  3. Mathew CC. The isolation of high molecular weight eukaryotic DNA. In: Walker JM, Ed. Methods in Molecular Biology, Vol. 11. New York: Human Press. 1984; 31-34.

  4. Wichers M, Kohler W, Brennemann W, Boese V, Sokolowski P, Bidlingmaier F, Ludwig M. X-linked adre noleukodystrophy associated with 14 novel ALD gene mutations: no correlation between type of mutation and age of onset. Hum Genet 1999; 105(2?): 116-119.

  5. Kemp S, Pujol A, Waterham HR, van Geel BM, Boehm CD, Raymond GV, Cutting GR, Wanders RJ, Moser HW. ABCD1 mutations and the Xlinked adreno leukodystrophy mutation database: role in diagnosis and clinical correlations. Hum Mutat 2001; 18(3): 499-515.




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