Literature DB >> 8956044

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

P Maceratesi1, F Sangiuolo, G Novelli, P Ninfali, M Magnani, J K Reichardt, B Dallapiccola.   

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Year:  1996        PMID： 8956044     DOI： 10.1002/(SICI)1098-1004(1996)8:4<369::AID-HUMU12>3.0.CO;2-0

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  2 in total

1.  Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22.

Authors:  M Mangino; O Sanchez; I Torrente; A De Luca; F Capon; G Novelli; B Dallapiccola
Journal:  Am J Hum Genet       Date:  1999-08       Impact factor: 11.025

2.  Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.

Authors:  Rena Papachristoforou; Petros P Petrou; Hilary Sawyer; Maggie Williams; Anthi Drousiotou
Journal:  Ann Hum Genet       Date:  2019-04-17       Impact factor: 1.670
  2 in total

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