Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina, Venu T

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria. [electronic resource] - American journal of medical genetics. Part A Jun 2005 - 289-91 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1552-4825

10.1002/ajmg.a.30748 doi


Amino Acid Sequence
Base Sequence
Cystathionine--urine
Cystathionine gamma-Lyase--genetics
DNA--chemistry
DNA Mutational Analysis
DNA, Mitochondrial--genetics
Hepatolenticular Degeneration--enzymology
Humans
Infant
Mitochondrial Diseases--enzymology
Mutation
Phosphotransferases (Alcohol Group Acceptor)--genetics
Siblings
Syndrome