Functional and structural impact of the most prevalent missense mutations in classic galactosemia-Reference-Cited by-同舟云学术

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

Published:2014-06-23 Issue:6 Volume:2 Page:484-496
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Coelho Ana I.¹,Trabuco Matilde¹,Ramos Ruben¹,Silva Maria João¹²,Tavares de Almeida Isabel¹²,Leandro Paula¹²,Rivera Isabel¹²,Vicente João B.¹²

Affiliation:

1. Metabolism and Genetics Group Research Institute for Medicines and Pharmaceutical Sciences (iMed.UL) Faculty of Pharmacy University of Lisbon1649‐003 Lisbon Portugal

2. Department of Biochemistry and Human Biology Faculty of Pharmacy University of Lisbon1649‐003 Lisbon Portugal

Funder

Fundação para a Ciência e Tecnologia

FEBS Short-term Fellowship

SPDM

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.94

Reference62 articles.

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2. Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells

3. Classical galactosaemia revisited

4. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

5. Hint, Fhit, and GalT: Function, Structure, Evolution, and Mechanism of Three Branches of the Histidine Triad Superfamily of Nucleotide Hydrolases and Transferases

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