Literature DB >> 7815432

The arylsulphatase A gene and molecular genetics of metachromatic leucodystrophy.

M L Barth1, A Fensom, A Harris.   

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Year:  1994        PMID： 7815432      PMCID： PMC1050072          DOI： 10.1136/jmg.31.9.663

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  38 in total

1.  The organization of the gene for the human cerebroside sulfate activator protein.

Authors:  H Holtschmidt; K Sandhoff; W Fürst; H Y Kwon; D Schnabel; K Suzuki
Journal:  FEBS Lett       Date:  1991-03-25       Impact factor: 4.124

2.  Structure and evolution of the human prosaposin chromosomal gene.

Authors:  E G Rorman; V Scheinker; G A Grabowski
Journal:  Genomics       Date:  1992-06       Impact factor: 5.736

3.  Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient.

Authors:  A L Fluharty; C B Fluharty; W Bohne; K von Figura; V Gieselmann
Journal:  Am J Hum Genet       Date:  1991-12       Impact factor: 11.025

4.  Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy.

Authors:  R Kondo; N Wakamatsu; H Yoshino; N Fukuhara; T Miyatake; S Tsuji
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

5.  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

6.  An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.

Authors:  W Bohne; K von Figura; V Gieselmann
Journal:  Hum Genet       Date:  1991-06       Impact factor: 4.132

7.  High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy.

Authors:  J Kreysing; W Bohne; C Bösenberg; S Marchesini; J C Turpin; N Baumann; K von Figura; V Gieselmann
Journal:  Am J Hum Genet       Date:  1993-08       Impact factor: 11.025

8.  Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy.

Authors:  Y Hasegawa; H Kawame; Y Eto
Journal:  DNA Cell Biol       Date:  1993 Jul-Aug       Impact factor: 3.311

9.  Late-onset metachromatic leukodystrophy: molecular pathology in two siblings.

Authors:  J Kappler; K von Figura; V Gieselmann
Journal:  Ann Neurol       Date:  1992-03       Impact factor: 10.422

10.  Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain.

Authors:  M L Barth; A Fensom; A Harris
Journal:  Hum Genet       Date:  1993-03       Impact factor: 4.132
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