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

Prolidase Deficiency (PD) is an autosomal recessive rare disorder caused by loss or reduction of prolidase enzymatic activity due to variants in the PEPD gene. PD clinical features vary among affected individuals: skin ulcerations, recurrent infections, and developmental delay are common. In this st...

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Detalles Bibliográficos
Autores principales: Linhares, Natália D., Wilk, Piotr, Wątor, Elżbieta, Tostes, Meire A., Weiss, Manfred S., Pena, Sergio D. J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2021
Materias:
Human and Medical Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056889/
https://www.ncbi.nlm.nih.gov/pubmed/33877262
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0393

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8056889/
https://www.ncbi.nlm.nih.gov/pubmed/33877262
http://dx.doi.org/10.1590/1678-4685-GMB-2020-0393

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