11 results on '"Shimozawa, Nobuyuki"'
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2. Genomic structure and identification of 11 novel mutations of thePEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
3. A novel mutation, R125X in peroxisome assembly factor-1 responsible for zellweger syndrome
4. Fifteen polymorphisms in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene: Diagnostic implications in morquio disease
5. Hunter disease in a girl caused by R468Q mutation in the iduronate-2-sulfatase gene and skewed inactivation of the X chromosome carrying the normal allele
6. Fourteen novel mucopolysaccharidosis IVA producing mutations in GALNS gene
7. Mucopolysaccharidosis type I: Identification of common mutations that cause Hurler and Scheie syndromes in Japanese populations
8. Mucopolysaccharidosis IVA: Submicroscopic deletion of 16q24.3 and a novel R386C mutation of n‐acetylgalactosamine‐6‐sulfate sulfatase gene in a classical Morquio disease
9. Two new mutations, Q473X and N487S, in a caucasian patient with mucopolysaccharidosis IVA (Morquio disease)
10. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.
11. Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders.
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