(Q28297563)

English

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain

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scholarly article

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1 reference

Europe PubMed Central

Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain (English)

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Gaucher's disease

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based on heuristic

inferred from title

author name string

Pilar Alfonso

1

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Sofía Aznarez

2

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Manuel Giralt

3

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Miguel Pocovi

4

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Pilar Giraldo

5

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language of work or name

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publication date

2007

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Journal of Human Genetics

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52

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5

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391-6

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Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The facile detection of the nt 1226 mutation of glucocerebrosidase by 'mismatched' PCR.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Report of the Spanish Gaucher's disease registry: clinical and genetic characteristics.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High prevalence of the 55-bp deletion (c.1263del55) in exon 9 of the glucocerebrosidase gene causing misdiagnosis (for homozygous N370S (c.1226A > G) mutation) in Spanish Gaucher disease patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease in Spanish patients: Analysis of eight mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher disease: complexity in a "simple" disorder

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation prevalence among 51 unrelated Spanish patients with Gaucher disease: identification of 11 novel mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of three rare (G377S, T134P and 1451delAC), and two novel mutations (G195W and Rec[1263del55;1342G>C]] in Spanish Gaucher disease patients. Mutation in brief no. 251. Online

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The human glucocerebrosidase gene and pseudogene: structure and evolution

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Leukocyte beta-glucosidase in homozygotes and heterozygotes for Gaucher disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gaucher's disease: molecular, genetic and enzymological aspects

1 reference

https://pubmed.ncbi.nlm.nih.gov/17427031

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S10038-007-0135-4

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