Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis.

Gaucher disease results, in most patients, from mutations in the gene encoding glucocerebrosidase. Mutation D409H is the third most frequent in Spanish patients, accounting for 5.7% of all mutated alleles. This allele is associated mainly with the neurological forms of the disease. Recently, homozyg...

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Bibliografske podrobnosti
Main Authors: Chabás, A, Gort, L, Montfort, M, Castelló, F, Domínguez, M C, Grinberg, D, Vilageliu, L
Format: Artigo
Jezik:Inglês
Izdano: 1998
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051434/
https://ncbi.nlm.nih.gov/pubmed/9733040
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