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Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

We have identified three novel mutations in four non-Ashkenazi Italian patients with muscle phosphofructokinase (PFK-M) deficiency (Tarui disease). Patient 1 was homozygous for an A-to-C substitution at the 3' end of intron 6 of the PFK-M gene, changing the consensus splice-junction sequence AG...

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Hlavní autoři: Tsujino, S., Servidei, S., Tonin, P., Shanske, S., Azan, G., DiMauro, S.
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1918246/
https://ncbi.nlm.nih.gov/pubmed/7513946
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