Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia (Q45231924)

11 December 2017

title

Beta-glucocerebrosidase gene locus as a link for Gaucher's disease and familial hypo-alpha-lipoproteinaemia (English)

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11 December 2017

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9

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11

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L A Cupples

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M Pocovi

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A Cenarro

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F Civeira

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M A Torralba

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J I Perez-Calvo

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P Mozas

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P Giraldo

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M Giralt

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language of work or name

English

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publication date

1 June 1998

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11 December 2017

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volume

351

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11 December 2017

issue

9120

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11 December 2017

page(s)

1919-1923

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Genetic fine localization of the beta-glucocerebrosidase (GBA) and prosaposin (PSAP) genes: implications for Gaucher disease

11 December 2017

cites work

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Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population

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Reduced plasma concentrations of total, low density lipoprotein and high density lipoprotein cholesterol in patients with Gaucher type I disease

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Abnormalities in lipoprotein metabolism in Gaucher type 1 disease

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High-density lipoprotein--the clinical implications of recent studies

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A simple salting out procedure for extracting DNA from human nucleated cells

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

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7 January 2021

Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene

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

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Erroneous assignment of Gaucher disease genotype as a consequence of a complete gene deletion

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The use of measured genotype information in the analysis of quantitative phenotypes in man. III. Simultaneous estimation of the frequencies and effects of the apolipoprotein E polymorphism and residual polygenetic effects on cholesterol, betalipopro

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Prediction of severity of Gaucher's disease by identification of mutations at DNA level

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Type 1 Gaucher disease: molecular, biochemical, and clinical characterization of patients from northern Portugal.

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Regional chromosomal localisation of APOA2 to 1q21-1q23

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Identification of scavenger receptor SR-BI as a high density lipoprotein receptor

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A-IMilano apoprotein. Decreased high density lipoprotein cholesterol levels with significant lipoprotein modifications and without clinical atherosclerosis in an Italian family

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Identifiers

DOI

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11 December 2017

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