The compound heterozygous mutations of c.607G>a and c.657delC in the <i>FAH</i> gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)-Reference-Cited by-同舟云学术

The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)

Published:2022-11-12 Issue:1 Volume:11 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Chi Huan¹,Gan Chun¹,Jiang Yaru¹,Chen Dan¹,Qiu Jiawen¹,Yang Qing¹,Chen Yaxi²,Wang Mo¹,Yang Haiping¹,Jiang Wei¹,Li Qiu¹^ORCID

Affiliation:

1. Pediatric Research Institute, National Clinical Research Center for Child Health and Disorders, China International Science and Technology Cooperation Base of Child development and Critical Disorders, Chongqing Key Laboratory of Pediatrics Children's Hospital of Chongqing Medical University Chongqing P.R. China

2. Centre for Lipid Research & Key Laboratory of Molecular Biology for Infectious Diseases (Ministry of Education), Institute for Viral Hepatitis, Department of Infectious Diseases The Second Affiliated Hospital, Chongqing Medical University Chongqing P.R. China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2090

Reference41 articles.

1. Cubilin Is Essential for Albumin Reabsorption in the Renal Proximal Tubule

2. Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1

3. Heat Shock Response Associated with Hepatocarcinogenesis in a Murine Model of Hereditary Tyrosinemia Type I

4. Molecular changes associated with chronic liver damage and neoplastic lesions in a murine model of hereditary tyrosinemia type 1

5. Predictive Effects of Urinary Liver-Type Fatty Acid–Binding Protein for Deteriorating Renal Function and Incidence of Cardiovascular Disease in Type 2 Diabetic Patients Without Advanced Nephropathy