Cystathionine β-synthase: Difference between revisions
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== Mutations in CBS gene == | == Mutations in CBS gene == | ||
There are more than 100 reported mutations in CBS gene from patients with homocystinuria most of which are missense. Among most frequent mutations is I278T (c.833T>C) in C-terminal domain found in about 25 % of all homocystinuric alleles, and G307S (c.919G>A) located in active site. | There are more than 100 reported mutations in CBS gene from patients with homocystinuria most of which are missense. Among most frequent mutations is I278T (c.833T>C) in C-terminal domain found in about 25 % of all homocystinuric alleles, and G307S (c.919G>A) located in active site.<ref>PIM:10338090</ref> | ||
'''Mutations in active site''' | '''Mutations in active site''' | ||