Narisawa Kuniaki | Department Of Pediatrics And Biochemical Genetics Tohoku University School Of Medicine

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著作論文

Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
Chromosomal localization, structure, single-nucleotide polymorphisms, and expression of the human H-protein gene of the glycine cleavage system (GCSH), a candidate gene for nonketotic hyperglycinemia
Haplotype analysis suggests that the two predominant mutations in Japanese patients with holocarboxylase synthetase deficiency are founder mutations
A one-base deletion (183delC) and a missense mutation (D276H) in the T-protein gene from a Japanese family with nonketotic hyperglycinemia
Mutation and polymorphic marker analyses of 65K- and 67K-glutamate decarboxylase genes in two families with pyridoxine-dependent epilepsy
DINUCLEOTIDE REPEAT POLYMORPHISM IN 65k-GLUTAMATE DECARBOXYLASE GENE
Molecular analysis of methylmalonyl-CoA mutase deficiency : identification of three missense mutations in mut^0 patients
NONKETOTIC HYPERGLYCINEMIA : BIOCHEMICAL, MOLECULAR, AND NEUROLOGICAL ASPECTS

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