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

Patrizia Maceratesi, Federica Sangiuolo, Giuseppe Novelli, Paolino Ninfali, Mauro Magnani, Juergen K V Reichardt, Bruno Dallapiccola

Research output: Contribution to journalArticle

Original languageEnglish
Pages (from-to)369-372
Number of pages4
JournalHuman Mutation
Volume8
Issue number4
DOIs
Publication statusPublished - 1996

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. / Maceratesi, Patrizia; Sangiuolo, Federica; Novelli, Giuseppe; Ninfali, Paolino; Magnani, Mauro; Reichardt, Juergen K V; Dallapiccola, Bruno.

In: Human Mutation, Vol. 8, No. 4, 1996, p. 369-372.

Research output: Contribution to journalArticle

Maceratesi, Patrizia ; Sangiuolo, Federica ; Novelli, Giuseppe ; Ninfali, Paolino ; Magnani, Mauro ; Reichardt, Juergen K V ; Dallapiccola, Bruno. / Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. In: Human Mutation. 1996 ; Vol. 8, No. 4. pp. 369-372.
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