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Mice with Type 2 and 3 Gaucher Disease Point Mutations Generated by a Single Insertion Mutagenesis P...

Mice with Type 2 and 3 Gaucher Disease Point Mutations Generated by a Single Insertion Mutagenesis P...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pnas_primary_95_5_2503

Mice with Type 2 and 3 Gaucher Disease Point Mutations Generated by a Single Insertion Mutagenesis Procedure (SIMP)

About this item

Full title

Mice with Type 2 and 3 Gaucher Disease Point Mutations Generated by a Single Insertion Mutagenesis Procedure (SIMP)

Publisher

United States: National Academy of Sciences of the United States of America

Journal title

Proceedings of the National Academy of Sciences - PNAS, 1998-03, Vol.95 (5), p.2503-2508

Language

English

Formats

Publication information

Publisher

United States: National Academy of Sciences of the United States of America

More information

Scope and Contents

Contents

Gaucher disease is caused by mutations in the gene encoding the lysosomal enzyme glucocerebrosidase (GC). Three clinical types of Gaucher disease have been defined according to the presence (type 2 and 3) or absence (type 1) of central nervous system disease and severity of clinical manifestations. The clinical course of the disease correlates with...

Alternative Titles

Full title

Mice with Type 2 and 3 Gaucher Disease Point Mutations Generated by a Single Insertion Mutagenesis Procedure (SIMP)

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pnas_primary_95_5_2503

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pnas_primary_95_5_2503

Other Identifiers

ISSN

0027-8424

E-ISSN

1091-6490

DOI

10.1073/pnas.95.5.2503

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