Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency-Reference-Cited by-同舟云学术

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Published:2020-02-05 Issue:4 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Lilleväli Hardo¹²,Pajusalu Sander¹³⁴^ORCID,Wojcik Monica H.⁵⁶,Goodrich Julia⁵⁶,Collins Ryan L.⁵⁷,Murumets Ülle¹,Tammur Pille¹,Blau Nenad⁸⁹,Lilleväli Kersti²,Õunap Katrin¹⁴⁵^ORCID

Affiliation:

1. Department of Clinical Genetics, United Laboratories Tartu University Hospital Tartu Estonia

2. Institute of Biomedicine and Translational Medicine University of Tartu Tartu Estonia

3. Department of Genetics Yale University School of Medicine New Haven CT USA

4. Department of Clinical Genetics Institute of Clinical Medicine University of Tartu Tartu Estonia

5. The Broad Institute of MIT and Harvard Cambridge MA USA

6. Divisions of Genetics and Genomics and Newborn Medicine Department of Pediatrics Children’s Hospital Boston MA USA

7. Program in Bioinformatics and Integrative Genomics Division of Medical Sciences Harvard Medical School Boston MA USA

8. Dietmar‐Hopp Metabolic Center University of Heidelberg Heidelberg Germany

9. Division of Metabolism University Children’s Hospital Zürich Switzerland

Funder

National Heart, Lung, and Blood Institute

National Human Genome Research Institute

Eesti Teadusagentuur

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1154

Reference28 articles.

1. Genetics of Phenylketonuria: Then and Now

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