User menu

A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy

Bibliographic reference Lissens, W. ; Vervoort, R ; Vanregemorter, N. ; VanBogaert, P ; Freund, M. ; et. al. A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy. In: Journal of Inherited Metabolic Disease, Vol. 19, no. 6, p. 782-786 (1996)
Permanent URL
  1. Barth ML, Fensom A, Harris A (1995) Identification of seven novel mutations associated with metachromatic leukodystrophy.Hum Mutat 6: 170–176.
  2. Baum H, Dodgson KS, Spencer B (1959) The assay of arylsulphatases A and B in human urine.Clin Chim Acta 4: 453–458.
  3. Fensom AH, Marsh J, Jackson M, et al (1988) First-trimester diagnosis of metachromatic leukodystrophy.Clin Genet 34: 122–125.
  4. Gieselmann V, Zlotogora J, Harris A, Wenger DA, Morris CP (1994) Molecular genetics of metachromatic leukodystrophy.Hum Mutat 4: 233–242.
  5. Harvey JS, Nelson PV, Carey WF, Robertson EF, Morris CP (1993) An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy.Hum Mutat 2: 261–267.
  6. Jarman AP, Nicholls RD, Weatherall DJ, Clegg JB, Higgs DR (1986) Molecular characterisation of a hypervariable region downstream of the humanα-globin gene cluster.EMBO J 5: 1857–1863.
  7. Kafert S, Heinisch U, Zlotogora J, Gieselman V (1995) A missense mutation P136L in the arylsulfatase A gene causes instability and loss of activity of the mutant enzyme.Hum Genet 95: 201–204.
  8. Kasai Kentaro, Nakamura Yusuke, White Ray, Amplification of a Variable Number of Tandem Repeats (VNTR) Locus (pMCT118) by the Polymerase Chain Reaction (PCR) and Its Application to Forensic Science, 10.1520/jfs12944j
  9. Kolodny EH, Fluharty AL (1995) Metachromatic leukodystrophy and multiple sulfatase deficiency: sulfatide lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2693–2739.
  10. Luyten JA, Wenink PW, Steenbergen-Spanjers GC, et al (1995) Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.Hum Genet 96: 357–360.
  11. Oshima A, Kyle JW, Miller RD, et al (1987) Cloning, sequencing, and expression of cDNA for humanβ-glucuronidase.Proc Natl Acad Sci USA 84: 685–689.
  12. Polten A, Fluharty A, Kappler J, von Figura K, Gieselmann V (1991) Molecular basis of different forms of metachromatic leukodystrophy.N Engl J Med 324: 18–22.
  13. Regis S, Carrozzo R, Filocamo M, Serra G, Mastropaolo C, Gatti R (1995) An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.Hum Genet 96: 233–235.
  14. Stein C, Gieselmann V, Kreysing J, et al (1989) Cloning and expression of human arylsulfatase A.J Biol Chem 264: 1252–1259.