TY  - GEN
AU  - Yamaguchi,Naoki
AU  - Kobayashi,Keiko
AU  - Yasuda,Tomotsugu
AU  - Nishi,Ikumi
AU  - Iijima,Mikio
AU  - Nakagawa,Masanori
AU  - Osame,Mitsuhiro
AU  - Kondo,Ikuko
AU  - Saheki,Takeyori
TI  - 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
SN  - 1098-1004
PY  - 2002///0305
KW  - Age of Onset
KW  - Alleles
KW  - Asian People
KW  - genetics
KW  - Base Sequence
KW  - Calcium-Binding Proteins
KW  - deficiency
KW  - Cholestasis
KW  - complications
KW  - Citrullinemia
KW  - diagnosis
KW  - Codon, Nonsense
KW  - DNA Mutational Analysis
KW  - methods
KW  - Female
KW  - Gene Frequency
KW  - Genetic Testing
KW  - Genotype
KW  - Hepatitis
KW  - Humans
KW  - Infant, Newborn
KW  - Japan
KW  - epidemiology
KW  - Male
KW  - Membrane Transport Proteins
KW  - Mitochondrial Membrane Transport Proteins
KW  - Mitochondrial Proteins
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Mutation, Missense
KW  - Polymerase Chain Reaction
KW  - Polymorphism, Restriction Fragment Length
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/humu.10022
ER  -