Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies-Reference-Cited by-同舟云学术

Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies

Published:2017-07-25 Issue:10 Volume:173 Page:2736-2742
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Porrmann Joseph¹,Betcheva‐Krajcir Elitza¹,Di Donato Nataliya¹^ORCID,Kahlert Anne‐Karin¹,Schallner Jens²,Rump Andreas¹,Schröck Evelin¹,Dobritzsch Doreen³,Roelofsen Jeroen⁴,van Kuilenburg André B. P.⁴,Tzschach Andreas¹^ORCID

Affiliation:

1. Institut für Klinische GenetikTechnische Universität DresdenDresdenGermany

2. Children's hospitalUniversitätsklinikum Carl Gustav CarusDresdenGermany

3. Department of ChemistryBiomedical CenterUppsala UniversityUppsalaSweden

4. Department of Clinical ChemistryLaboratory Genetic Metabolic DiseasesAcademic Medical CentreEmma Children's HospitalUniversity of AmsterdamAmsterdamThe Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.38359

Reference23 articles.

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4. Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.

5. Neurodevelopmental Impairment and Deranged PRPP and Purine Nucleotide Synthesis in Inherited Superactivity of PRPP Synthetase

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