Keyword Analysis & Research: example of point mutation diseases

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What are 2 genetic disorders caused by point mutation?

Neurofibromatosis is caused by point mutations in the Neurofibromin 1 or Neurofibromin 2 gene. Sickle-cell anemia is caused by a point mutation in the β-globin chain of hemoglobin, causing the hydrophilic amino acid glutamic acid to be replaced with the hydrophobic amino acid valine at the sixth position.

What diseases are caused by mutations?

examples of diseases, due to mitochondrial carrier mutations are: combined d-2- and l-2-hydroxyglutaric aciduria, carnitine-acylcarnitine carrier deficiency, hyperornithinemia-hyperammonemia-homocitrillinuria (hhh) syndrome, early infantile epileptic encephalopathy type 3, amish microcephaly, aspartate/glutamate isoform 1 deficiency, congenital …

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