Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms.

Human mutation

Volumn 16, Issue 6, 2000, Pages 532-

  Batandier, C ^a   Picard, A ^a   Tessier, N ^a   Lunardi, J ^a  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; MITOCHONDRIAL DNA; OXIDOREDUCTASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; ENZYMOLOGY; FEMALE; GENETIC POLYMORPHISM; GENETICS; HEREDITARY OPTIC ATROPHY; HUMAN; MUTATION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALANINE; AMINO ACID SUBSTITUTION; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; MUTATION; NADH, NADPH OXIDOREDUCTASES; OPTIC ATROPHIES, HEREDITARY; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; THREONINE;

EID: 0034547830     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/1098-1004(200012)16:6<532::AID-HUMU19>3.0.CO;2-P     Document Type: Article

References (0)