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8950198
Summary
- Title
- Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
- Authors
-
- Redonnet-Vernhet I
- Mahuran DJ
- Salvayre R
- Dubas F
- Levade T
- Source
- Biochim Biophys Acta
- Publication Date
- 1996 Nov 15
- PubMed ID
- 8950198
