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Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006679
Journal Article
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Journal Article
Journal Article
Human Genetics, ISSN 0340-6717, 7/2005, Volume 117, Issue 2, pp. 275 - 277
Only two Gaucher disease (GD) patients bearing mutations in the prosaposin gene (PSAP), and not in the glucocerebrosidase gene (GBA), have been reported. In... 
LifeSciences | VARIANT | GENETICS & HEREDITY | Point Mutation | Glucosylceramidase - genetics | Saposins - metabolism | Gaucher Disease - genetics | Humans | Brain - enzymology | Saposins - genetics | Exons - genetics | Glucosylceramidase - metabolism | RNA Stability - genetics | Brain Chemistry - genetics | Gaucher Disease - enzymology
Journal Article
Journal Article
Journal of medical genetics, ISSN 0022-2593, 4/2010, Volume 47, Issue 4, pp. 262 - 267
Bardet-Biedl syndrome (BBS) is primarily an autosomal recessive disorder characterized by the five cardinal features retinitis pigmentosa, postaxial... 
Molecular Genetics
Journal Article
Blood Cells, Molecules and Diseases, ISSN 1079-9796, 2003, Volume 31, Issue 2, pp. 183 - 186
Journal Article
Human Genetics, ISSN 0340-6717, 4/2003, Volume 112, Issue 4, pp. 426 - 429
The glucocerebrosidase and metaxin genes lie in a gene-rich region that also includes two corresponding pseudogenes. This gives rise to recombinant alleles. We... 
NOMENCLATURE | FUSION GENE | HAPLOTYPE | N370S | GENETICS & HEREDITY
Journal Article
Human genetics, ISSN 0340-6717, 04/2003, Volume 112, Issue 4, p. 426
The glucocerebrosidase and metaxin genes lie in a gene-rich region that also includes two corresponding pseudogenes. This gives rise to recombinant alleles. We... 
Proteins - genetics | Founder Effect | Glucosylceramidase - genetics | Gaucher Disease - genetics | Humans | Alleles | Genotype | Polymorphism, Genetic - genetics | Gene Rearrangement - genetics | Mutation - genetics | Sequence Analysis, DNA
Journal Article
La malaltia de Gaucher és una malaltia d'herència autosòmica recessiva, causada per mutacions en el gen GBA, o en alguns pocs casos, per mutacions en el gen... 
Gen GBA | Malalties hereditàries | Ciències Experimentals i Matemàtiques | 575 - Genètica general. Citogenètica general. Immunogenètica. Evolució. Filogènia | Malaltia de Gaucher | Mutacions genètiques
Dissertation