Gal A - Search Results

1

Mutation analysis of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II (Hunter syndrome).

Bunge S, Steglich C, Beck M, Rosenkranz W, Schwinger E, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1992 Aug;1(5):335-9. doi: 10.1093/hmg/1.5.335. Hum Mol Genet. 1992. PMID: 1303211

2

Deletion of the Hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II.

Beck M, Steglich C, Zabel B, Dahl N, Schwinger E, Hopwood JJ, Gal A. Beck M, et al. Among authors: gal a. Am J Med Genet. 1992 Sep 1;44(1):100-3. doi: 10.1002/ajmg.1320440123. Am J Med Genet. 1992. PMID: 1355630

3

Gene diagnosis and carrier detection in Hunter syndrome by the iduronate-2-sulphatase cDNA probe.

Gal A, Beck M, Sewell AC, Morris CP, Schwinger E, Hopwood JJ. Gal A, et al. J Inherit Metab Dis. 1992;15(3):342-6. doi: 10.1007/BF02435972. J Inherit Metab Dis. 1992. PMID: 1357230 No abstract available.

4

Mucopolysaccharidosis type I: identification of 13 novel mutations of the alpha-L-iduronidase gene.

Bunge S, Kleijer WJ, Steglich C, Beck M, Schwinger E, Gal A. Bunge S, et al. Among authors: gal a. Hum Mutat. 1995;6(1):91-4. doi: 10.1002/humu.1380060119. Hum Mutat. 1995. PMID: 7550242 No abstract available.

5

Mutations of the iduronate-2-sulfatase gene in 12 Polish patients with mucopolysaccharidosis type II (Hunter syndrome).

Popowska E, Rathmann M, Tylki-Szymanska A, Bunge S, Steglich C, Schwinger E, Gal A. Popowska E, et al. Among authors: gal a. Hum Mutat. 1995;5(1):97-100. doi: 10.1002/humu.1380050114. Hum Mutat. 1995. PMID: 7728156 No abstract available.

6

Evidence for an iduronate-sulfatase pseudogene near the functional Hunter syndrome gene in Xq27.3-q28.

Rathmann M, Bunge S, Steglich C, Schwinger E, Gal A. Rathmann M, et al. Among authors: gal a. Hum Genet. 1995 Jan;95(1):34-8. doi: 10.1007/BF00225070. Hum Genet. 1995. PMID: 7814022

7

X-linked dominant Charcot-Marie-Tooth neuropathy: valine-38-methionine substitution of connexin32.

Orth U, Fairweather N, Exler MC, Schwinger E, Gal A. Orth U, et al. Among authors: gal a. Hum Mol Genet. 1994 Sep;3(9):1699-700. doi: 10.1093/hmg/3.9.1699. Hum Mol Genet. 1994. PMID: 7833935 No abstract available.

8

Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,XXY male heterozygous for a missense point mutation.

Bunge S, Steglich C, Lorenz P, Beck M, Xu S, Hopwood JJ, Gal A. Bunge S, et al. Among authors: gal a. Prenat Diagn. 1994 Sep;14(9):777-80. doi: 10.1002/pd.1970140902. Prenat Diagn. 1994. PMID: 7845883

9

Missense mutations are frequent in the gene for X-chromosomal adrenoleukodystrophy (ALD).

Fuchs S, Sarde CO, Wedemann H, Schwinger E, Mandel JL, Gal A. Fuchs S, et al. Among authors: gal a. Hum Mol Genet. 1994 Oct;3(10):1903-5. doi: 10.1093/hmg/3.10.1903. Hum Mol Genet. 1994. PMID: 7849723 No abstract available.

10

Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients.

Bunge S, Kleijer WJ, Steglich C, Beck M, Zuther C, Morris CP, Schwinger E, Hopwood JJ, Scott HS, Gal A. Bunge S, et al. Among authors: gal a. Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861. Hum Mol Genet. 1994. PMID: 7951228

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