Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing-Reference-Cited by-同舟云学术

Structural analysis of new compound heterozygous variants in PEPD gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing

Published:2021 Issue:2 Volume:44 Page:
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Linhares Natália D.¹,Wilk Piotr²,Wątor Elżbieta²,Tostes Meire A.³,Weiss Manfred S.⁴,Pena Sergio D. J.⁵^ORCID

Affiliation:

1. Universidade Federal de Minas Gerais, Brazil; Universidade Federal de Minas Gerais, Brazil

2. Helmholtz-Zentrum Berlin, Germany; Jagiellonian University, Poland

3. Hospital das Clínicas da Universidade Federal de Minas Gerais, Brazil

4. Helmholtz-Zentrum Berlin, Germany

5. Universidade Federal de Minas Gerais, Brazil; Universidade Federal de Minas Gerais, Brazil; Laboratório Gene - Núcleo de Genética Médica, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

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3. Kinetic and structural evidences on human prolidase pathological mutants suggest strategies for enzyme functional rescue;Besio R;PLoS One,2013

4. Collagens at a Glance;Brinckmann J;Top Curr Chem,2005

5. Mendel,MD: A user-friendly open-source web tool for analyzing WES and WGS in the diagnosis of patients with Mendelian disorders;Cardenas RGCCL;PLoS Comput Biol,2017

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