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A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1
A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata Type 1

Marziyeh Alamatsaz; Kamran Ghaedi; Motahare-Sadat Hashemi; Yousef Shafeghati; Mohammad Faghihi; Mohammad Hossein Nasr-Esfahani

Volume 6, Issue 2 , February 2018, , Pages 7193-7200

https://doi.org/10.22038/ijp.2017.26197.2240

Abstract
  BackgroundRhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients ...  Read More