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Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

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Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease (English)

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D Schnabel

1

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M Schröder

series ordinal

2

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K Sandhoff

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3

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language of work or name

English

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publication date

17 June 1991

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published in

FEBS Letters

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volume

284

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issue

1

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page(s)

57-9

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cites work

AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2

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21 January 2018

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses

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reference URL

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21 January 2018

Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus

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Crossref

reference URL

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21 January 2018

Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator

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21 January 2018

Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency

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21 January 2018

Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy

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21 January 2018

Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect

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21 January 2018

Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease

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21 January 2018

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

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21 January 2018

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

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21 January 2018

Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNA

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21 January 2018

Identifiers

DOI

10.1016/0014-5793(91)80760-Z

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1425531

OpenCitations bibliographic resource ID

1425531

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1425531

PubMed publication ID

2060627

1 reference

stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1425531

(Q28287225)

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease

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