Literature DB >> 1830186

Molecular genetics of beta-hexosaminidase deficiencies.

K Neote1, D J Mahuran, R A Gravel.   

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Year:  1991        PMID： 1830186

Source DB:  PubMed          Journal:  Adv Neurol        ISSN： 0091-3952


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  4 in total

1.  Upregulation of the genes encoding lysosomal hydrolases, a perforin-like protein, and peroxidases in the brains of mice affected with an experimental prion disease.

Authors:  J Kopacek; S Sakaguchi; K Shigematsu; N Nishida; R Atarashi; R Nakaoke; R Moriuchi; M Niwa; S Katamine
Journal:  J Virol       Date:  2000-01       Impact factor: 5.103

2.  Two new mutations in a late infantile Tay-Sachs patient are both in exon 1 of the beta-hexosaminidase alpha subunit gene.

Authors:  D L Harmon; D Gardner-Medwin; J L Stirling
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

3.  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.

Authors:  F E Kleiman; R D de Kremer; A O de Ramirez; R A Gravel; C E Argaraña
Journal:  Hum Genet       Date:  1994-09       Impact factor: 4.132

4.  A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.

Authors:  Z Cao; M R Natowicz; M M Kaback; J S Lim-Steele; E M Prence; D Brown; T Chabot; B L Triggs-Raine
Journal:  Am J Hum Genet       Date:  1993-12       Impact factor: 11.025
  4 in total

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