Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient-Reference-Cited by-同舟云学术

Association of a novel homozygous mutation in the HMGCS2 gene with an HMGCSD in an Iranian patient

Published:2020-09-23 Issue:11 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Heidari Masoud¹,Soleyman‐Nejad Morteza²,Isazadeh Alireza³^ORCID,Shapouri Javad⁴,Taskhiri Mohammad Hossein²⁵,Ahangari Roghayyeh⁶,Mohamadi Ali Reza⁷,Ebrahimi Masoumeh⁷,Karimi Hadi⁷,Bolhassani Manzar²,Karimi Zahra²,Heidari Mansour²⁸

Affiliation:

1. Department of Animal Biology Faculty of Natural Sciences University of Tabriz Tabriz Iran

2. Ariagene Medical Genetics Laboratory Qom Iran

3. Immunology Research Center Tabriz University of Medical Sciences Tabriz Iran

4. Pediatric Clinical Research and Development Center Qom University of Medical Sciences Qom Iran

5. Department of Cellular and Molecular Genetics Islamic Azad University, Qom Branch Qom Iran

6. Department of Obstetrics and Gynecology Nekouei‐Hedayati‐Forghani HospitalQom University of Medical Sciences Qom Iran

7. Qom Social Welfare and Rehabilitation Center Qom Iran

8. Department of Medical Genetics Tehran University of Medical Sciences (TUMS Tehran Iran

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1507

Reference18 articles.

1. A novel homozygous MYO7A mutation: Case report;Ahmadi M.;Acta Medica Iranica,2018

2. Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency

3. Genetic basis of mitochondrial HMG-CoA synthase deficiency

4. Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Clinical Course and Description of Causal Mutations in Two Patients

5. Ketone body metabolism and its defects

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