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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

✍ Scribed by Isabelle Redonnet-Vernhet; Don J. Mahuran; Robert Salvayre; Frédéric Dubas; Thierry Levade


Book ID
117618160
Publisher
Elsevier Science
Year
1996
Tongue
English
Weight
714 KB
Volume
1317
Category
Article
ISSN
0925-4439

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