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Academic Journal

Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.

  • Authors : Viggiano E; Division of Inborn Metabolic Diseases, Department of Paediatrics, University Hospital of Padova, Italy.; Marabotti A

Subjects: Galactosemias/Galactosemias/Galactosemias/*genetics ; UDPglucose-Hexose-1-Phosphate Uridylyltransferase/UDPglucose-Hexose-1-Phosphate Uridylyltransferase/UDPglucose-Hexose-1-Phosphate Uridylyltransferase/*genetics; Adolescent

  • Source: Gene [Gene] 2015 Apr 01; Vol. 559 (2), pp. 112-8. Date of Electronic Publication: 2015 Jan 13.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

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

  • Authors : Maceratesi P; Dipartimento di Sanità Pubblica e Biologia Cellulare, Università Tor Vergata di Roma, Italy.; Sangiuolo F

Subjects: Frameshift Mutation* ; Point Mutation* ; Polymorphism, Genetic*

  • Source: Human mutation [Hum Mutat] 1996; Vol. 8 (4), pp. 369-72.Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Print ISSN: 1059-7794 (Print)

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  • 1-2 of  2 results for ""Novelli, G.""