Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations. [electronic resource]
Producer: 20020305Description: 122-30 p. digitalISSN:- 1098-1004
- Age of Onset
- Alleles
- Asian People -- genetics
- Base Sequence
- Calcium-Binding Proteins -- deficiency
- Cholestasis -- complications
- Citrullinemia -- diagnosis
- Codon, Nonsense -- genetics
- DNA Mutational Analysis -- methods
- Female
- Gene Frequency -- genetics
- Genetic Testing -- methods
- Genotype
- Hepatitis -- complications
- Humans
- Infant, Newborn
- Japan -- epidemiology
- Male
- Membrane Transport Proteins
- Mitochondrial Membrane Transport Proteins
- Mitochondrial Proteins
- Molecular Sequence Data
- Mutation -- genetics
- Mutation, Missense -- genetics
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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