Title : Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.

Pub. Date : 2009 Sep 4

PMID : 19555656






2 Functional Relationships(s)
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1 A novel heteroplasmic A14841G mutation, one of the variants with a serine substituted for a highly conserved asparagine at amino acid 32 of Cytochrome b (Cytb), may play a synergistic role with the C4171A mutation, leading to significantly different clinical manifestations of LHON among these families. Serine mitochondrially encoded cytochrome b Homo sapiens
2 A novel heteroplasmic A14841G mutation, one of the variants with a serine substituted for a highly conserved asparagine at amino acid 32 of Cytochrome b (Cytb), may play a synergistic role with the C4171A mutation, leading to significantly different clinical manifestations of LHON among these families. Serine mitochondrially encoded cytochrome b Homo sapiens