Concepedia

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

Emanuela Viggiano, Anna Marabotti, A.P. Burlina, A.P. Burlina, Chiara Cazzorla, Maria Rosaria D’Apice, Laura Giordano, Ilaria Fasan, Giuseppe Novelli, Angelo Facchiano,

Gene · 2015 · 28 citations · 38 references

DOI

Concepts

References

38

SIFT: predicting amino acid changes that affect protein function

P.C. Ng · Nucleic Acids Research · 2003 · 6.9K citations · Full text

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CUPSAT: prediction of protein stability upon point mutations

Vijaya Parthiban, M. Michael Gromiha, Dietmar Schomburg · Nucleic Acids Research · 2006 · 707 citations · Full text

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PoPMuSiC 2.1: a web server for the estimation of protein stability changes upon mutation and sequence optimality

Yves Dehouck, Jean Marc Kwasigroch, Dimitri Gilis et al. · BMC Bioinformatics · 2011 · 563 citations · Full text

, , +14

The adult galactosemic phenotype

Susan E. Waisbren, Nancy L. Potter, Catherine M. Gordon et al. · Journal of Inherited Metabolic Disease · 2011 · 186 citations · Full text

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The Magnitude and Challenge of False-Positive Newborn Screening Test Results

Archives of Pediatrics and Adolescent Medicine · 2000 · 161 citations

, , +17