TY  - JOUR 
T1  - Structural analysis of new compound heterozygous variants in <i>PEPD</i> gene identified in a patient with Prolidase Deficiency diagnosed by exome sequencing
JO  - Genetics and Molecular Biology
A1  - Linhares, Natália D.
A1  - Wilk, Piotr
A1  - Wątor, Elżbieta
A1  - Tostes, Meire A.
A1  - Weiss, Manfred S.
A1  - Pena, Sergio D. J.
SN  - 1415-4757
UL  - 10.1590/1678-4685-GMB-2020-0393
VL  - 44 
Y1  - 2021
PB  - Brasil 
ER  -