[A new point mutation in the mitochondrial gene ND1, detected in a patient with type II diabetes].
A novel mutation in a mitochondrial gene was identified in a patient with type II diabetes mellitus. G-to-A transition was localized at the nt3316 position of gene ND1 and resulted in alanine threonine replacement at position 4 of mitochondrial NAD-H-dehydrogenase.
Kalinin
V N
VN
Institute fuer Molekularbiologische Diagnostik, Bonn, Germany.
Schmidt
W
W
Poller
W
W
Olek
K
K
D000409:Alanine / Q000235:genetics; D004272:DNA, Mitochondrial; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D006801:Humans; D009245:NADH Dehydrogenase / Q000235:genetics*; D015418:Optic Atrophies, Hereditary / Q000235:genetics; D017354:Point Mutation; D013912:Threonine / Q000235:genetics
D004272:DNA, Mitochondrial; D013912:Threonine; D009245:NADH Dehydrogenase; D000409:Alanine
Novaia tochechnaia mutatsiia v mitokhondrial'nom gene ND1, obnaruzhennaia u bol'nogo diabetom tipa II.