Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa, Alessandra
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. [electronic resource] - Human mutation May 2009 - 741-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20930 doi
Adult
Amino Acid Transport Systems, Basic--chemistry
Biological Transport
Child
Child, Preschool
Citrulline--analogs & derivatives
Escherichia coli
Female
Humans
Hyperammonemia--epidemiology
Infant
Infant, Newborn
Male
Middle Aged
Mitochondrial Membrane Transport Proteins
Mutant Proteins--isolation & purification
Mutation--genetics
Ornithine--blood
Protein Structure, Secondary
Syndrome
Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. [electronic resource] - Human mutation May 2009 - 741-8 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1098-1004
10.1002/humu.20930 doi
Adult
Amino Acid Transport Systems, Basic--chemistry
Biological Transport
Child
Child, Preschool
Citrulline--analogs & derivatives
Escherichia coli
Female
Humans
Hyperammonemia--epidemiology
Infant
Infant, Newborn
Male
Middle Aged
Mitochondrial Membrane Transport Proteins
Mutant Proteins--isolation & purification
Mutation--genetics
Ornithine--blood
Protein Structure, Secondary
Syndrome