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Carrier detection in Sandhoff disease.

Three new cases of Sandhoff disease are reported. One infant was the second affected child in a large family. The parents, who were cousins, were part of a large kindred from an isolated community in northern Saskatchewan. We assayed total and heat-stable hexosaminidases in 38 other members of the k...

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Hlavní autoři: Lowden, J A, Ives, E J, Keene, D L, Burton, A L, Skomorowski, M A, Howard, F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1978
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1685463/
https://ncbi.nlm.nih.gov/pubmed/414620
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