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Rapid One-Step Carrier Detection Assay of Mucolipidosis IV Mutations in the Ashkenazi Jewish Population

โœ Scribed by Hantash, Feras M.; Olson, Susan C.; Anderson, Ben; Buller, Arlene; Chen, Rebecca; Crossly, Beryl; Sun, Weimin; Strom, Charles M.

Book ID
125450251
Publisher
American Society for Investigative Pathology
Year
2006
Tongue
English
Weight
1013 KB
Volume
8
Category
Article
ISSN
1525-1578

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๐Ÿ“œ SIMILAR VOLUMES

Mucolipidosis type IV: Novel MCOLN1 muta
Mucolipidosis type IV: Novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population
โœ Ruth Bargal; Nili Avidan; Tzvia Olender; Edna Ben Asher; Marcia Zeigler; Annick ๐Ÿ“‚ Article ๐Ÿ“… 2001 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 256 KB

The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder. The disease is found in relatively high frequency among Ashkenazi Jews due to two founder mutations that comprise 95% of the MLIV alleles in this population [Bargal et al., 2000].

The frequency of mucolipidosis type IV i
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations
โœ Gideon Bach; Michael B.T. Webb; Ruth Bargal; Marcia Zeigler; Joseph Ekstein ๐Ÿ“‚ Article ๐Ÿ“… 2005 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 56 KB

Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder that occurs in an increased frequency in the Ashkenazi Jewish (AJ) population. The frequency of the disease in this population has been established by the testing of 66,749 AJ subjects in the Dor Yeshorim program, a uniqu