Three new mutations (P183T, V150L, 528insG) and el...[Hum Mutat. 1996] - PubMed Result

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1: Hum Mutat. 1996;8(4):369-72. Links

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

Maceratesi P, Sangiuolo F, Novelli G, Ninfali P, Magnani M, Reichardt JK, Dallapiccola B.

Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.

PMID: 8956044 [PubMed - indexed for MEDLINE]

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Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian p...Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency.

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