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Characterization of unusual hexosaminidase A (HEX A) deficient human mutants.

Two families with unusual hexosaminidase A (HEX A) mutations are described. In one, the proband had the Tay-Sachs disease phenotype with considerable HEX A activity. In the second, the proband was phenotypically normal with absent HEX A activity. Activities using ganglioside GM2 as substrate demonst...

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Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: O'Brien, J S, Tennant, L, Veath, M L, Scott, C R, Bucknall, W E
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1978
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685872/
https://ncbi.nlm.nih.gov/pubmed/747188
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