Mostrar el registro sencillo del ítem
dc.contributor.author
Scheps, Karen Gabriela
dc.contributor.author
de Paula, Silvia M.
dc.contributor.author
Bitsman, Alicia
dc.contributor.author
Freigeiro, Daniel H.
dc.contributor.author
Basack, Nora
dc.contributor.author
Pennesi, Sandra P.
dc.contributor.author
Varela, Viviana
dc.date.available
2016-11-30T16:54:43Z
dc.date.issued
2013-06
dc.identifier.citation
Scheps, Karen Gabriela; de Paula, Silvia M.; Bitsman, Alicia; Freigeiro, Daniel H.; Basack, Nora; et al.; Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]; Taylor & Francis; Hemoglobin; 37; 5; 6-2013; 492-500
dc.identifier.issn
0363-0269
dc.identifier.uri
http://hdl.handle.net/11336/8502
dc.description.abstract
We describe a novel frameshift mutation on the HBA1 gene (c.187delG), causative of α-thalassemia (α-thal) in a Black Cuban family with multiple sequence variants in the HBA genes and the Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T] mutation. The deletion of the first base of codon 62 resulted in a frameshift at amino acid 62 with a putative premature termination codon (PTC) at amino acid 66 on the same exon (p.W62fsX66), which most likely triggers nonsense mediated decay of the resulting mRNA. This study also presents the first report of the α212 patchwork allele in Latin America and the description of two new sequence variants in the HBA2 region (c.-614G>A in the promoter region and c.95+39 C>T on the first intron).
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Taylor & Francis
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Alpha-Thalassemia
dc.subject
Non Deletional Mutation
dc.subject
Α212 Patchwork Allele
dc.subject
Genetics
dc.subject.classification
Otras Ciencias de la Salud
dc.subject.classification
Ciencias de la Salud
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Coinheritance of a novel mutation on the hba1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T]
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2016-11-24T17:20:37Z
dc.journal.volume
37
dc.journal.number
5
dc.journal.pagination
492-500
dc.journal.pais
Reino Unido
dc.journal.ciudad
Londres
dc.description.fil
Fil: Scheps, Karen Gabriela. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
dc.description.fil
Fil: de Paula, Silvia M.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
dc.description.fil
Fil: Bitsman, Alicia. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Agudos "ramos Mejia"; Argentina
dc.description.fil
Fil: Freigeiro, Daniel H.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
dc.description.fil
Fil: Basack, Nora. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
dc.description.fil
Fil: Pennesi, Sandra P.. Gobierno de la Ciudad de Buenos Aires. Hospital Gral.de Ni?os "r.gutierrez". Servicio Hematologia; Argentina
dc.description.fil
Fil: Varela, Viviana. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Inmunología, Genética y Metabolismo; Argentina. Universidad de Buenos Aires. Facultad de Farmacia y Bioquímica; Argentina
dc.journal.title
Hemoglobin
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/http://www.tandfonline.com/doi/abs/10.3109/03630269.2013.806930?journalCode=ihem20
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.3109/03630269.2013.806930
Archivos asociados