What alteration to the genetic code causes the Niemann-Pick disease? - pick disease more condition_symptoms
I know what happens in the chromosome of all types (). However, I must know what causes the disorder.
Wednesday, December 16, 2009
Pick Disease More Condition_symptoms What Alteration To The Genetic Code Causes The Niemann-Pick Disease?
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Takahashi et al. (1992) found that small deletions or nonsense mutations, which cut off nonsense mutations ASM polypeptide, non-catalytic enzyme involved in causing Type A Niemann-Pick disease, whereas mutation wrongly implies that that the catalytic activity of the enzyme defect residual problems nonneuronopathic produce milder phenotype of type B.
Vanier and Millat (2003) indicated that approximately 95% of patients with Niemann-Pick Type C disease, NPC1 mutations in the gene, which is a large membrane glycoprotein primarily to late endosomes coded, and the remainder had mutations in the NPC2 gene, which encodes a small soluble lysosomal protein cholesterol-binding properties.
In 2 patients with NPC2, Naureckiene et al. (2000) identified mutations in the HE1 (NPC2) gene (601015.0001-601015.0002).
In 6 unrelated patients with NPC2, Verot et al. (2007) has identified 5 different mutations in NPC2. The authors reported a total of 15 pathogenic mutations have been identified 22 families on the other. E20X was the moc frequent mutations, representing 34% of mutant alleles.
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