Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia-Reference-Cited by-同舟云学术

Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia

Published:2019-08 Issue: Volume:708 Page:10-13
ISSN:0378-1119
Container-title:Gene
language:en
Short-container-title:Gene

Author:

Hajjari Mohammadreza,Tahmasebi-Birgani Maryam,Mohammadi-asl Javad,Nasiri Habib,Kollaee Abolghasem,Mahmoodi Mandana,Ansari Hossein

Funder

Shahid Chamran University of Ahvaz

Noor genetic Laboratory, Ahvaz

Publisher

Elsevier BV

Subject

Genetics,General Medicine

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3. Genetics of coenzyme q10 deficiency;Doimo;Molecular syndromology,2014

4. Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy;Gerards;Mitochondrion,2010

5. Isolation of a novel gene, CABC1, encoding a mitochondrial protein that is highly homologous to yeast activity of bc1 complex;Iiizumi;Cancer Res.,2002

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