(Q28247494)

English

Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection

scientific article (publication date: September 1994)

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scholarly article

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Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection (English)

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Sandhoff disease

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author name string

F E Kleiman

1

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R D de Kremer

2

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A O de Ramirez

3

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R A Gravel

4

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C E Argaraña

5

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language of work or name

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publication date

September 1994

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94

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3

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279-82

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Molecular genetics of beta-hexosaminidase deficiencies

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Screening for carriers of Tay-Sachs disease among Ashkenazi Jews. A comparison of DNA-based and enzyme-based tests

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The presence of two different infantile Tay-Sachs disease mutations in a Cajun population

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs disease--carrier screening, prenatal diagnosis, and the molecular era. An international perspective, 1970 to 1993. The International TSD Data Collection Network

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis).

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel exon mutation in the human beta-hexosaminidase beta subunit gene affects 3' splice site selection

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

What maintains the frequencies of human genetic diseases?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Five related Lebanese individuals with high plasma lysosomal hydrolases: a new defect in mannose-6-phosphate receptor recognition?

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic cause of a juvenile form of Sandhoff disease. Abnormal splicing of beta-hexosaminidase beta chain gene transcript due to a point mutation within intron 12

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The biochemistry of HEXA and HEXB gene mutations causing GM2 gangliosidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Natural history and inherited disorders of a lysosomal enzyme, beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. I. Statistical methods

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variants of Tay-Sachs disease: Tay-Sachs disease and Sandhoff's disease in French Canadians, juvenile Tay-Sachs disease in Lebanese Canadians, and a Tay-Sachs screening program in the French-Canadian population

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Tay-Sachs disease gene in North American Jewish populations: geographic variations and origin

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two mutations produce intron insertion in mRNA and elongated beta-subunit of human beta-hexosaminidase

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tay-Sachs disease: a genetic-historical view of selective advantage

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

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[Estimation of heterozygote frequency of Sandhoff disease in a high-risk Argentinian population. Predictive assignment of the genotype through statistical analysis]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Diagnosis and characterization of GM 2 gangliosidosis type II (Sandhoff disease) by analysis of the accumulating N-acetyl-glucosaminyl oligosaccharides with high performance liquid chromatography.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sandhoff disease: a prevalent form of infantile GM2 gangliosidosis in Lebanon

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Sandhoff disease heterozygote detection: a component of population screening for Tay-Sachs disease carriers. II. Sandhoff disease gene frequencies in American Jewish and non-Jewish populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Sandhoff disease or GM2 gangliosidosis, type 2. High frequency of the gene in a native population]

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier detection in Sandhoff disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds

1 reference

https://pubmed.ncbi.nlm.nih.gov/8076944

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/BF00208283

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