Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1

Detalles Bibliográficos
Autores principales: Machaczka, Maciej, Klimkowska, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2014
Materias:
Letter to the Editor
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147243/
https://www.ncbi.nlm.nih.gov/pubmed/24577513
http://dx.doi.org/10.1007/s00277-014-2036-x
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author Machaczka, Maciej
Klimkowska, Monika
author_facet Machaczka, Maciej
Klimkowska, Monika
author_sort Machaczka, Maciej
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spelling pubmed-41472432014-08-28 Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1 Machaczka, Maciej Klimkowska, Monika Ann Hematol Letter to the Editor Springer Berlin Heidelberg 2014-02-28 2014 /pmc/articles/PMC4147243/ /pubmed/24577513 http://dx.doi.org/10.1007/s00277-014-2036-x Text en © The Author(s) 2014 https://creativecommons.org/licenses/by/4.0/ Open Access This article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited.
spellingShingle Letter to the Editor
Machaczka, Maciej
Klimkowska, Monika
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title_full Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title_fullStr Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title_full_unstemmed Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title_short Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1
title_sort novel heterozygous c.798c>g and c.1040t>g mutations in the gba1 gene are associated with a severe phenotype of gaucher disease type 1
topic Letter to the Editor
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4147243/
https://www.ncbi.nlm.nih.gov/pubmed/24577513
http://dx.doi.org/10.1007/s00277-014-2036-x
work_keys_str_mv AT machaczkamaciej novelheterozygousc798cgandc1040tgmutationsinthegba1geneareassociatedwithaseverephenotypeofgaucherdiseasetype1
AT klimkowskamonika novelheterozygousc798cgandc1040tgmutationsinthegba1geneareassociatedwithaseverephenotypeofgaucherdiseasetype1

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