Identification of GM2-gangliosidosis B1 variant carriers

Author:

Ribeiro M. G.,Pinto R.,Oliveira P.,S� Miranda M. C.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference17 articles.

1. Aerts JMFG, Sa Miranda MC, Wanzeller de Lacerda L et al (1991) The identification of type 1 Gaucher disease patients, asymptomatic cases and carriers in The Netherlands using urine samples: an evaluation.Clin Chim Acta 203: 349?362.

2. Ainsworth PJ, Coulter-Mackie MB (1992) A double mutation in exon 6 of the ?-hexosaminidase ?-subunit in a patient with the B1 variant of Tay-Sachs disease.Am J Hum Genet 51: 802?809.

3. Conover WJ (1980)Practical Nonparametric Statistics, 2nd edn. New York: Wiley.

4. Dos Santos MR, Tanaka A, Sa Miranda MC, Ribeiro MG, Maia M, Suzuki K (1991) GM2-gangliosidosis B1 variant: analysis of ?-hexosaminidase ? gene mutations in 11 patients from a defined region in Portugal.Am J Hum Genet 49: 886?890.

5. Fernandes M, Kaplan F, Natowicz M et al (1992) A new Tay-Sachs disease B1 allele in exon 7 in two compound heterozygotes each with a second novel mutation.Hum Mol Genet 1: 759?761.

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