DNA mutation analysis of Gaucher patients-Reference-Cited by-同舟云学术

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DNA mutation analysis of Gaucher patients

Published:1992-02-01 Issue:3 Volume:42 Page:331-336
ISSN:0148-7299
Container-title:American Journal of Medical Genetics
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Sidransky Ellen,Tsuji Shoji,Martin Brian M.,Stubblefield Barbara,Ginns Edward I.

Publisher

Wiley

Subject

Genetics (clinical)

Reference25 articles.

1. (1989) Glucosylceramide lipidoses: Gaucher disease. In (eds), “The Metabolic Basis of Inherited Disease,” 6th ed. New York, McGraw Hill, pp 1677-1698.

2. Gaucher disease associated with a unique Kphl restriction site: identification of the amino-acid substitution

3. Ocular Motor Signs in Some Metabolic Diseases

4. Prevalent and rare mutations among Gaucher patients

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1. A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades;Orphanet Journal of Rare Diseases;2019-11-14

2. A common and two novel GBA mutations in Thai patients with Gaucher disease;Journal of Human Genetics;2013-05-30

3. Gaucher disease: N370S glucocerebrosidase gene frequency in the Portuguese population;Clinical Genetics;2008-06-28

4. Gaucher disease: studies of phenotype, molecular diagnosis and treatment;Clinical Genetics;2008-06-28

5. The molecular characterization of Gaucher disease in South Africa;Clinical Genetics;2008-06-28

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