Identification of two novel variants of <scp> <i>BCS1L</i> </scp> gene in a patient with classical <scp>GRACILE</scp> syndrome-Reference-Cited by-同舟云学术

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Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome

Published:2022-08-22 Issue:10 Volume:27 Page:810-814
ISSN:1320-5358
Container-title:Nephrology
language:en
Short-container-title:Nephrology

Author:

Guo Wencong¹^ORCID,Shao Yingfei²,Lang Yanhua³,Wang Hong⁴,Lin Yi⁵,Liu Xuyan¹^ORCID,Zhang Ruixiao¹,Shao Leping¹^ORCID

Affiliation:

1. Laboratory of Nephrology & department of Nephrology The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China

2. Wenzhou Medical University Renji College Wenzhou China

3. Department of Nursing The Affiliated Qingdao Municipal Hospital of Qingdao University Qingdao China

4. Department of Nephrology The Eighth People's Hospital of Qingdao Qingdao China

5. Department of Pediatrics The Affiliated Hospital of Qingdao University Qingdao China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Nephrology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nep.14086

Reference9 articles.

1. Missense Mutations in theBCS1LGene as a Cause of the Björnstad Syndrome

2. GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L

3. Expanding the phenotypic spectrum of BCS1L ‐related mitochondrial disease

4. Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease

5. Clinical spectrum of BCS1L Mitopathies and their underlying structural relationships

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1. Pathological variants in nuclear genes causing mitochondrial complex III deficiency: An update;Journal of Inherited Metabolic Disease;2024-07-25

2. Differential Diagnosis of Conjugated Hyperbilirubinemia in Infancy (Literature Review);I.P. Pavlov Russian Medical Biological Herald;2024-07-10

3. Bcs1, a novel target for fungicide;Frontiers in Chemistry;2023-03-13

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