A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.

Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and very repetitive regions that characterize the non-coding genome remain difficult to...

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Bibliographic Details
Main Author: Seixas, AI (author)
Other Authors: Loureiro, JR (author), Costa, C (author), Ordóñez-Ugalde, A (author), Marcelino, H (author), Oliveira, CL (author), Loureiro, JL (author), Dhingra, A (author), Brandão, E (author), Cruz, VT (author), Timóteo, A (author), Quintáns, B (author), Rouleau, GA (author), Rizzu, P (author), Carracedo, A (author), Bessa, J (author), Heutink, P (author), Sequeiros, J (author), Sobrido, MJ (author), Coutinho, P (author), Silveira, I (author)
Format: article
Language:eng
Published: 2017
Subjects:
Adaptor Proteins Signal Transducing/genetics
Adaptor Proteins Signal Transducing/metabolism
Adolescent
Adult
Age of Onset
Alleles
Base Sequence
Cerebellum/metabolism
Chromosome Segregation/genetics
Chromosomes Human Pair 1/genetics
DNA Mutational Analysis
DNA Intergenic/genetics
Embryonic Development/genetics
Female
Genetic Predisposition to Disease
HEK293 Cells
Haplotypes/genetics
Humans
Introns/genetics
Male
Microsatellite Repeats/genetics
Middle Aged
Mutagenesis Insertional/genetics
Nerve Tissue Proteins/genetics
Nerve Tissue Proteins/metabolism
Pedigree
Physical Chromosome Mapping
RNA/genetics
RNA Messenger/genetics
RNA Messenger/metabolism
Spinocerebellar Ataxias/genetics
Young Adult
Online Access:http://hdl.handle.net/10216/110348
Country:Portugal
Oai:oai:repositorio-aberto.up.pt:10216/110348

Internet

http://hdl.handle.net/10216/110348

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