McInnes et al., 1992 - Google Patents

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

McInnes et al., 1992

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Document ID
10056155779704614317
Author
McInnes B
Potier M
Wakamatsu N
Melancon S
Klavins M
Tsuji S
Mahuran D
et al.
Publication year
Publication venue
The Journal of clinical investigation

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Sandhoff disease is caused by mutations affecting the beta subunit of lysosomal beta- hexosaminidase (EC 3.2. 1.52) and displays a wide spectrum of clinical phenotypes. We report a 57-year-old patient with a very mild phenotype, although residual hexosaminidase …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
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    • C12Q1/6876—Hybridisation probes
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    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
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