Kondo N - Search Results

1

Polymerase chain reaction detection of two novel human N-acetylgalactosamine-6-sulfate sulfatase gene polymorphisms by single-strand conformation polymorphism analysis or by StyI and StuI cleavages.

Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Tomatsu S, et al. Among authors: kondo n. Hum Genet. 1995 Feb;95(2):243-4. doi: 10.1007/BF00209415. Hum Genet. 1995. PMID: 7860078

2

Two new mutations, Q473X and N487S, in a Caucasian patient with mucopolysaccharidosis IVA (Morquio disease).

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Yamada N, Isogai K, Kato Z, Sukegawa K, Kondo N, Suzuki Y, et al. Tomatsu S, et al. Among authors: kondo n. Hum Mutat. 1995;6(2):195-6. doi: 10.1002/humu.1380060218. Hum Mutat. 1995. PMID: 7581409 No abstract available.

3

Mucopolysaccharidosis type IVA: common double deletion in the N-acetylgalactosamine-6-sulfatase gene (GALNS).

Hori T, Tomatsu S, Nakashima Y, Uchiyama A, Fukuda S, Sukegawa K, Shimozawa N, Suzuki Y, Kondo N, Horiuchi T, et al. Hori T, et al. Among authors: kondo n. Genomics. 1995 Apr 10;26(3):535-42. doi: 10.1016/0888-7543(95)80172-i. Genomics. 1995. PMID: 7607677

4

Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patient.

Song XQ, Fukao T, Suzuki Y, Imamura A, Uchiyama A, Shimozawa N, Kondo N, Orii T. Song XQ, et al. Among authors: kondo n. Hum Mol Genet. 1995 Jun;4(6):1093-4. doi: 10.1093/hmg/4.6.1093. Hum Mol Genet. 1995. PMID: 7655465 No abstract available.

5

Mucopolysaccharidosis IVA: structural gene alterations identified by Southern blot analysis and identification of racial differences.

Tomatsu S, Fukuda S, Cooper A, Wraith JE, Uchiyama A, Hori T, Nakashima Y, Yamada N, Sukegawa K, Kondo N, et al. Tomatsu S, et al. Among authors: kondo n. Hum Genet. 1995 Apr;95(4):376-81. doi: 10.1007/BF00208958. Hum Genet. 1995. PMID: 7705830

6

Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.

Ogawa T, Tomatsu S, Fukuda S, Yamagishi A, Rezvi GM, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orü T. Ogawa T, et al. Among authors: kondo n. Hum Mol Genet. 1995 Mar;4(3):341-9. doi: 10.1093/hmg/4.3.341. Hum Mol Genet. 1995. PMID: 7795586

7

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P.

Uchiyama A, Tomatsu S, Kondo N, Suzuki Y, Shimozawa N, Fukuda S, Sukegawa K, Taki N, Inamori H, Orii T. Uchiyama A, et al. Among authors: kondo n. Hum Mol Genet. 1994 Jul;3(7):1183-4. doi: 10.1093/hmg/3.7.1183. Hum Mol Genet. 1994. PMID: 7981693 No abstract available.

8

A novel splice site mutation in intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.

Tomatsu S, Fukuda S, Ogawa T, Kato Z, Isogai K, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T. Tomatsu S, et al. Among authors: kondo n. Hum Mol Genet. 1994 Aug;3(8):1427-8. doi: 10.1093/hmg/3.8.1427. Hum Mol Genet. 1994. PMID: 7987329 No abstract available.

9

Mucopolysaccharidosis IV A: molecular cloning of the human N-acetylgalactosamine-6-sulfatase gene (GALNS) and analysis of the 5'-flanking region.

Nakashima Y, Tomatsu S, Hori T, Fukuda S, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Nakashima Y, et al. Among authors: kondo n. Genomics. 1994 Mar 1;20(1):99-104. doi: 10.1006/geno.1994.1132. Genomics. 1994. PMID: 8020961

10

Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis.

Suzuki Y, Shimozawa N, Yajima S, Tomatsu S, Kondo N, Nakada Y, Akaboshi S, Lai M, Tanabe Y, Hashimoto T, et al. Suzuki Y, et al. Among authors: kondo n. Am J Hum Genet. 1994 Jan;54(1):36-43. Am J Hum Genet. 1994. PMID: 8279468 Free PMC article.

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