Literature DB >> 7649558

Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant.

J A Luyten1, P W Wenink, G C Steenbergen-Spanjers, R A Wevers, H K Ploos van Amstel, J G de Jong, L P van den Heuvel.   

Abstract

Sequencing of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient showed the presence of a 12-bp deletion in exon 2. This deletion was found in a compound heterozygous state with the previously described 287 C-->T transition.

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Year:  1995        PMID： 7649558     DOI： 10.1007/bf00210424

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  5 in total

1.  Prediction of protein conformation.

Authors:  P Y Chou; G D Fasman
Journal:  Biochemistry       Date:  1974-01-15       Impact factor: 3.162

2.  Molecular basis of different forms of metachromatic leukodystrophy.

Authors:  A Polten; A L Fluharty; C B Fluharty; J Kappler; K von Figura; V Gieselmann
Journal:  N Engl J Med       Date:  1991-01-03       Impact factor: 91.245

3.  Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins.

Authors:  J Garnier; D J Osguthorpe; B Robson
Journal:  J Mol Biol       Date:  1978-03-25       Impact factor: 5.469

4.  Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.

Authors:  V Gieselmann; A L Fluharty; T Tønnesen; K Von Figura
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

Review 5.  Molecular genetics of metachromatic leukodystrophy.

Authors:  V Gieselmann; J Zlotogora; A Harris; D A Wenger; C P Morris
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878
  5 in total
  4 in total

Review 1.  Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.

Authors:  Asif Mahmood; Jay Berry; David A Wenger; Maria Escolar; Magdi Sobeih; Gerald Raymond; Florian S Eichler
Journal:  J Child Neurol       Date:  2009-12-28       Impact factor: 1.987

2.  Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy.

Authors:  Samuel Groeschel; Christine í Dali; Philipp Clas; Judith Böhringer; Morten Duno; Christian Krarup; Christiane Kehrer; Marko Wilke; Ingeborg Krägeloh-Mann
Journal:  Neurology       Date:  2012-09-19       Impact factor: 9.910

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

Authors:  W Lissens; R Vervoort; N Van Regemorter; P Van Bogaert; M Freund; C Verellen-Dumoulin; S Seneca; I Liebaers
Journal:  J Inherit Metab Dis       Date:  1996       Impact factor: 4.982

Review 4.  Metachromatic leukodystrophy: molecular genetics and an animal model.

Authors:  V Gieselmann; U Matzner; B Hess; R Lüllmann-Rauch; R Coenen; D Hartmann; R D'Hooge; P DeDeyn; G Nagels
Journal:  J Inherit Metab Dis       Date:  1998-08       Impact factor: 4.982
  4 in total

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