AB065. Genetic testing and counseling in family with late onset autosomal dominant spinocerebellar ataxia

BACKGROUND: Spinocerebellar ataxia (SCA) is neurodegenerative disorders with autosomal dominant inheritance, characterized by progressive ataxia. More than 30 types of SCA are known caused by various causative genes. SCA3 (MJD1 gene) is the most common form of SCA. We present an SCA3 family with com...

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Bibliografske podrobnosti
izdano v:Ann Transl Med
Main Authors: Listyasari, Nurin Aisyiyah, Sihombing, Nydia Rena Benita, Winarni, Tri Indah, Belladona, Maria, Faradz, Sultana MH
Format: Artigo
Jezik:Inglês
Izdano: AME Publishing Company 2017
Teme:
Genetic Counselling and Education
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC5641712/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/atm.2017.s065
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