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Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.

Folate-dependent one-carbon metabolism is critical for the synthesis of numerous cellular constituents required for cell growth, and serine hydroxymethyltransferase (SHMT) is central to this process. Our studies reveal that the gene for cytosolic SHMT (cSHMT) maps to the critical interval for Smith-...

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Detalhes bibliográficos
Main Authors: Elsea, S H, Juyal, R C, Jiralerspong, S, Finucane, B M, Pandolfo, M, Greenberg, F, Baldini, A, Stover, P, Patel, P I
Formato: Artigo
Idioma:Inglês
Publicado em: 1995
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1801426/
https://ncbi.nlm.nih.gov/pubmed/8533763
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