A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria

We sought to establish rapid and specific genotyping methods for G360R mutation and for seven tightly linked markers in the homogentisate dioxygenase gene to address the question of whether G360R is a mutational hot spot or the result of a founder effect, as it has been repeatedly found in alkaptonu...

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Publicado en:JIMD Rep
Autores principales: Porfirio, Berardino, Sestini, Roberta, Gorelli, Greta, Cordovana, Miriam, Mannoni, Alessandro, Usher, Jeanette L., Introne, Wendy J., Gahl, William A., Vilboux, Thierry
Formato: Artigo
Lenguaje:Inglês
Publicado: Springer Berlin Heidelberg 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5110449/
https://ncbi.nlm.nih.gov/pubmed/26960557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_534
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