The mutation spectrum of the SLC25A13 gene in Chinese infants with intrahepatic cholestasis and aminoacidemia

Human non-synonymous SNPs: server and survey

Vasily Ramensky · Nucleic Acids Research · 2002 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Citrin and aralar1 are Ca2+‐stimulated aspartate/glutamate transporters in mitochondria

Luigi Palmieri, Beatriz Pardo, Francesco M. Lasorsa et al. · The EMBO Journal · 2001 · 509 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +12

The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

Keiko Kobayashi, David S. Sinasac, Mikio Iijima et al. · Nature Genetics · 1999 · 414 citations

Life Sciences, Genetics, Molecular Genetics +8

Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)

T. Ohura, K. Kobayashi, Yusaku Tazawa et al. · Journal of Inherited Metabolic Disease · 2007 · 144 citations

Medicine, Pathology, Pediatrics +13

Identification of two novel mutations in the SLC25A13 gene and detection of seven mutations in 102 patients with adult-onset type II citrullinemia

Tomotsugu Yasuda, Naoki Yamaguchi, Keiko Kobayashi et al. · Human Genetics · 2000 · 133 citations

Life Sciences, Genetics, Molecular Genetics +9