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.

Source:http://linkedlifedata.com/resource/pubmed/id/8950198

Biochim. Biophys. Acta 1996 Nov 15 1317 2 127-33

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8950198