Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene-Reference-Cited by-同舟云学术

Noncoding sequence variants define a novel regulatory element in the first intron of the N ‐acetylglutamate synthase gene

Published:2021-09-24 Issue:12 Volume:42 Page:1624-1636
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Häberle Johannes¹^ORCID,Moore Marvin B.²,Haskins Nantaporn³,Rüfenacht Véronique¹,Rokicki Dariusz⁴,Rubio‐Gozalbo Estela⁵,Tuchman Mendel³,Longo Nicola⁶^ORCID,Yandell Mark⁷⁸,Andrews Ashley⁹,AhMew Nicholas³,Caldovic Ljubica³¹⁰^ORCID

Affiliation:

1. Division of Metabolism and Children's Research Center University Children's Hospital Zurich Switzerland

2. Department of Human Genetics University of Utah Health Science Center Salt Lake City Utah USA

3. Center for Genetic Medicine Research Children's National Hospital Washington District of Columbia USA

4. Department of Pediatrics, Nutrition and Metabolic Diseases The Children's Memorial Health Institute Warsaw Poland

5. Department of Pediatrics and Clinical Genetics Maastricht University Medical Center Maastricht The Netherlands

6. Division of Medical Genetics, Department of Pediatrics University of Utah Health Science Center Salt Lake City Utah USA

7. Eccles Institute of Human Genetics University of Utah Health Science Center Salt Lake City Utah USA

8. 8USTAR Center for Genetic Discovery University of Utah Health Science Center Salt Lake City Utah USA

9. Division of Medical Genetics, Pediatrics University of Utah Health Science Center Salt Lake City Utah USA

10. Department of Genomics and Precision Medicine, School of Medical and Health Sciences The George Washington University Washington District of Columbia USA

Funder

National Institute of Diabetes and Digestive and Kidney Diseases

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24281

Reference78 articles.

1. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment

2. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra

3. Identification of a novel cell type-specific intronic enhancer of macrophage migration inhibitory factor (MIF) and its regulation by mithramycin