Kondo N - Search Results

1

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

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 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

4

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

5

Molecular analysis by Southern blot for the N-acetylgalactosamine-6-sulphate sulphatase gene causing mucopolysaccharidosis IVA in the Japanese population.

Tomatsu S, Fukuda S, Uchiyama A, Hori T, Nakashima Y, Kondo N, Suzuki Y, Shimozawa N, Sukegawa K, Orii T. Tomatsu S, et al. Among authors: kondo n. J Inherit Metab Dis. 1994;17(5):601-5. doi: 10.1007/BF00711598. J Inherit Metab Dis. 1994. PMID: 7837767 No abstract available.

6

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

7

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.

8

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

9

Mucopolysaccharidosis type II (Hunter disease): 13 gene mutations in 52 Japanese patients and carrier detection in four families.

Yamada Y, Tomatsu S, Sukegawa K, Suzuki Y, Kondo N, Hopwood JJ, Orii T. Yamada Y, et al. Among authors: kondo n. Hum Genet. 1993 Sep;92(2):110-4. doi: 10.1007/BF00219675. Hum Genet. 1993. PMID: 8370574 Free article.

10

Mucopolysaccharidosis IVA: four new exonic mutations in patients with N-acetylgalactosamine-6-sulfate sulfatase deficiency.

Tomatsu S, Fukuda S, Yamagishi A, Cooper A, Wraith JF, Hori T, Kato Z, Yamada N, Isogai K, Sukegawa K, Kondo N, Suzuki Y, Shimozawa N, Orii T. Tomatsu S, et al. Among authors: kondo n. Am J Hum Genet. 1996 May;58(5):950-62. Am J Hum Genet. 1996. PMID: 8651279 Free PMC article.

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