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Genomic Characterization of Chromosomal Insertions: Insights into the Mechanisms Underlying Chromothripsis
Chromosomal insertions are rare structural rearrangements, and the molecular mechanisms underlying their origin are unknown. In this study, we used whole genome sequencing to analyze breakpoints andExpand
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The spectrum of ZEB2 mutations causing the Mowat–Wilson syndrome in Japanese populations
Mowat–Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by moderate or severe intellectual disability, a characteristic facial appearance, microcephaly, epilepsy, agenesisExpand
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Human glycine decarboxylase gene (GLDC) and its highly conserved processed pseudogene (ψGLDC): their structure and expression, and the identification of a large deletion in a family with nonketotic
Abstract. Mutations in the glycine decarboxylase gene (GLDC) cause nonketotic hyperglycinemia (NKH), an inborn error of metabolism characterized by severe neurological disturbance. We have determinedExpand
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Cloning of three Caenorhabditis elegans genes potentially encoding novel matrix metalloproteinases.
Three genes potentially encoding novel matrix metalloproteinases (MMPs) were identified by sequence similarity searching of Caenorhabditis elegans genome database, and cDNAs for these MMPs wereExpand
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Determination of glutathionyl hemoglobin in hemodialysis patients using electrospray ionization liquid chromatography-mass spectrometry.
We first detected glutathionyl hemoglobin (Hb) beta-chain in hemodialysis patients and healthy subjects using electrospray ionization liquid chromatography-mass spectrometry. The ratio ofExpand
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Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis
We report a Japanese boy who died at Day 28 of life because of severe carbamoyl phosphate synthetase I (CPS1) deficiency that was proven by enzyme assay. By analysis of cDNA and genomic DNA, he wasExpand
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For novel gene mutations in five Japanese male patients with neonatal or late onset OTC deficiency: application of PCR-single-strand conformation polymorphisms for all exons and adjacent introns
1 Department of Pediatrics, Kumamoto University, School of Medicine, 1-1-1 Honjo, Kumamoto, 860 Japan 2 Department of Biochemistry, Kumamoto University, School of Medicine, 2-2-1 Honjo, Kumamoto, 860Expand
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Mutation and functional analysis of ABCC2/multidrug resistance protein 2 in a Japanese patient with Dubin–Johnson syndrome
Dubin–Johnson syndrome (DJS) is a recessive inherited disorder characterized by conjugated hyperbilirubinemia. It is caused by dysfunction of adenosine triphosphate‐binding cassette, sub‐family C,Expand
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The first case of 4-hydroxybutyric aciduria in Japan
We report a boy with 4-hydroxybutyric aciduria resulting from a deficiency of succinic semialdehyde dehydrogenase (SSADH). A boy, 1 year 5 months, showed delayed walk with hypotonia and could notExpand
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