A Novel Large Deletion Encompassing the Whole of the Galactose-1-Phosphate Uridyltransferase (GALT) Gene and Extending into the Adjacent Interleukin 11 Receptor Alpha (IL11RA) Gene Causes Classic Galactosemia Associated with Additional Phenotypic Abnormalities

Objective The characterization of a novel large deletion in the galactose-1-phosphate uridyltransferase (GALT) gene accounting for the majority of disease alleles in Cypriot patients with classic galactosemia. Methods DNA sequencing was used to identify the mutations followed by multiplex ligation-d...

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Autori principali: Papachristoforou, Rena, Petrou, Petros P., Sawyer, Hilary, Williams, Maggie, Drousiotou, Anthi
Natura: Artigo
Lingua:Inglês
Pubblicazione: Springer International Publishing 2013
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3897804/
https://ncbi.nlm.nih.gov/pubmed/24002815
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2013_249
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