Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations

Author:

Berger Johannes,Molzer Brunhilde,Gieselmann Volkmar,Bernheimer Hanno

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Reference8 articles.

1. Fluharty AL, Fluharty CB, Bohne W, Figura K von, Gieselmann V (1991) Two new arylsulfatase A mutations in a juvenile metachromatic leukodystrophy (MLD) patient. Am J Hum Genet 29:1340?1350

2. Gieselmann V, Polten A, Kreysing J, Kappler J, Fluharty A, Bohne W, Figura K von (1991) Mutations in arylsulfatase A alleles causing metachromatic leukodystrophy. Brain Dysf 4:235?243

3. Kolodny EH (1989) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipodosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Stanbury JB, Wyngaarden JB, Fredrickson DS (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1721?1750

4. Kothbauer P, Jellinger K, Gross H, Molzer B, Bernheimer H (1977) Adult metachromatic leukodystrophy manifested as schizophrenic psychosis. Arch Psychiat Nervenkr 224:379?387

5. Kumar R, Dunn LL (1989) Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes. Oncogene Res 4:235?241

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