Cargando…
Autosomal dominant hereditary ataxia in Sri Lanka
BACKGROUND: Spinocerebellar ataxias (SCA) are a group of hereditary neurodegenerative disorders. Prevalence of SCA subtypes differ worldwide. Autosomal dominant ataxias are the commonest types of inherited ataxias seen in Sri Lanka. The aim of the study is to determine the genetic etiology of patien...
Autores principales: | Sumathipala, Dulika S, Abeysekera, Gayan S, Jayasekara, Rohan W, Tallaksen, Chantal ME, Dissanayake, Vajira HW |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3667103/ https://www.ncbi.nlm.nih.gov/pubmed/23634774 http://dx.doi.org/10.1186/1471-2377-13-39 |
Ejemplares similares
-
Clinical and genetic features of Huntington disease in Sri Lanka
por: Sumathipala, Dulika S, et al.
Publicado: (2013) -
Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level
por: Padeniya, Padmapani, et al.
Publicado: (2022) -
An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report
por: Sumathipala, Dulika, et al.
Publicado: (2012) -
The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka
por: Wettasinghe, Tithila Kalum, et al.
Publicado: (2012) -
Implementation of genomic medicine in Sri Lanka: Initial experience and challenges
por: Sirisena, Nirmala D., et al.
Publicado: (2016)