Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Autor: Julio Da Luz, Amalia Ávila, Sandra Icasuriaga, María Gongóra, Luis Castillo, Alejandra Serrón, Elza Miyuki Kimura, Fernando Ferreira Costa, Mónica Sans, Maria de Fátima Sonati

Publikováno v: Genetics and Molecular Biology, Vol 36, Iss 3, Pp 316-322 (2013)

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected pat

Externí odkaz: https://doaj.org/article/601988c346994b18aa9b7f8d325b665c

Frequency and spectrum of hemoglobinopathy mutations in a Uruguayan pediatric population

Autor: María Delia Góngora, Alejandra Serrón, Fernando Ferreira Costa, Amalia Ávila, Luis Castillo, Sandra Icasuriaga, Mónica Sans, Julio da Luz, Maria de Fátima Sonati, Elza Miyuki Kimura

Publikováno v: Genetics and Molecular Biology, Vol 36, Iss 3, Pp 316-322 (2013)
Genetics and Molecular Biology
Genetics and Molecular Biology v.36 n.3 2013
Sociedade Brasileira de Genética (SBG)
instacron:SBG
Genetics and Molecular Biology, Volume: 36, Issue: 3, Pages: 316-322, Published: 19 JUL 2013

Hemoglobinopathies are the most common recessive diseases worldwide but their prevalence in Uruguay has not been investigated. In this study, 397 unrelated outpatient children from the Pereira Rosell Hospital Center (CHPR), as well as 31 selected pat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86a38b225aae4d8e7040e7bdabd47543
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572013000300003&lng=en&tlng=en

Mechanistic studies of hairpin to duplex conversion for trinucleotide repeat sequences

Autor: Sarah Delaney, Amalia Ávila Figueroa

Publikováno v: The Journal of biological chemistry. 285(19)

The expansion of a trinucleotide repeat sequence, such as CAG/CTG, has been pinpointed as the molecular basis for a number of neurodegenerative disorders. It has been proposed that as part of the expansion process, these repetitive sequences adopt no

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7297e4cc50facc446a04e86fee7162dc
https://pubmed.ncbi.nlm.nih.gov/20228068

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