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

Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders caused by mutations in the PEX7 gene. RCDP patients with the classic form of RCDP1 do not live more than 10- year. Materials and Methods In the present study, a two...

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Bibliographic Details
Main Authors: Marziyeh Alamatsaz, Kamran Ghaedi, Motahare-Sadat Hashemi, Yousef Shafeghati, Mohammad Faghihi, Mohammad Hossein Nasr-Esfahani
Format: Article
Language:English
Published: Mashhad University of Medical Sciences 2018-02-01
Series:International Journal of Pediatrics
Subjects:
Fibroblast
Peroxisome biogenesis disorder
PEX7
PTS2
RCDP
Online Access:http://ijp.mums.ac.ir/article_9556_c4804ce4536f685fd0a73a49c3fb656b.pdf

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http://ijp.mums.ac.ir/article_9556_c4804ce4536f685fd0a73a49c3fb656b.pdf

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