Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients (Q77848326)

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8 December 2019

title

Glucocerebrosidase mutations among Chinese neuronopathic and non-neuronopathic Gaucher disease patients (English)

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8 December 2019

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F Y Choy

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8 December 2019

K Wong

series ordinal

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8 December 2019

H P Shi

series ordinal

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8 December 2019

publication date

1 June 1999

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American Journal of Medical Genetics Part A

8 December 2019

published in

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8 December 2019

volume

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8 December 2019

issue

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8 December 2019

page(s)

484-486

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Hematologically important mutations: Gaucher disease

8 December 2019

cites work

1 reference

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METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.

21 January 2018

1 reference

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Novel insertion mutation in a non-Jewish Caucasian type 1 Gaucher disease patient

21 January 2018

1 reference

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Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients

21 January 2018

1 reference

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DNA analysis of an uncommon missense mutation in a Gaucher disease patient of Jewish-Polish-Russian descent

21 January 2018

1 reference

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Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients

21 January 2018

1 reference

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Corneal opacities in Gaucher disease

21 January 2018

1 reference

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The human glucocerebrosidase gene and pseudogene: structure and evolution

21 January 2018

1 reference

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Mutation screening of 17 Japanese patients with neuropathic Gaucher disease

21 January 2018

1 reference

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Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

21 January 2018

1 reference

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A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

21 January 2018

1 reference

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Comparison of RNase A, a chemical cleavage and GC-clamped denaturing gradient gel electrophoresis for the detection of mutations in exon 9 of the human acid beta-glucosidase gene

21 January 2018

1 reference

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A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

21 January 2018

1 reference

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A glucocerebrosidase fusion gene in Gaucher disease. Implications for the molecular anatomy, pathogenesis, and diagnosis of this disorder

21 January 2018

1 reference

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10.1002/(SICI)1096-8628(19990611)84:5<484::AID-AJMG14>3.0.CO;2-W

21 January 2018

Identifiers

DOI

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8 December 2019

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