مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Information Journal Paper

Title

A MISSENSE MUTATION OF G257A AT EXON 3 IN PEX7 CDS WAS RESPONSIBLE FOR THE INCIDENCE OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1

Pages

  7193-7200

Abstract

 Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive PEROXISOME BIOGENESIS DISORDERs caused by mutations in thePEX7 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-year-old girl with skeletal abnormalities and dysmorphic facial appearance is reported to be suffered from RCDP. The patient's parents were second cousins and healthy and there was no similar case in the parents’ family.PEX7 gene was sequenced in the patient and her parents.Results A homozygous mutation, G257A, was identifiedPEX7 in the genome of patient while the parents were compound heterozygous.Conclusion Taken together, clinical presentation and peroxisome profile of the patient suggested a missense mutation led to formation of a pathogenicPEX7, responsible for incidence of RCDP.

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    APA: Copy

    ALAMATSAZ, MARZIEH, GHAEDI, KAMRAN, HASHEMI, MOTAHARE SADAT, SHAFEGHATI, YOUSEF, FAGHIHI, MOHAMMAD, & NASRESFAHANI, MOHAMMAD HOSSEIN. (2018). A MISSENSE MUTATION OF G257A AT EXON 3 IN PEX7 CDS WAS RESPONSIBLE FOR THE INCIDENCE OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1. INTERNATIONAL JOURNAL OF PEDIATRICS, 6(2 (50)), 7193-7200. SID. https://sid.ir/paper/337389/en

    Vancouver: Copy

    ALAMATSAZ MARZIEH, GHAEDI KAMRAN, HASHEMI MOTAHARE SADAT, SHAFEGHATI YOUSEF, FAGHIHI MOHAMMAD, NASRESFAHANI MOHAMMAD HOSSEIN. A MISSENSE MUTATION OF G257A AT EXON 3 IN PEX7 CDS WAS RESPONSIBLE FOR THE INCIDENCE OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1. INTERNATIONAL JOURNAL OF PEDIATRICS[Internet]. 2018;6(2 (50)):7193-7200. Available from: https://sid.ir/paper/337389/en

    IEEE: Copy

    MARZIEH ALAMATSAZ, KAMRAN GHAEDI, MOTAHARE SADAT HASHEMI, YOUSEF SHAFEGHATI, MOHAMMAD FAGHIHI, and MOHAMMAD HOSSEIN NASRESFAHANI, “A MISSENSE MUTATION OF G257A AT EXON 3 IN PEX7 CDS WAS RESPONSIBLE FOR THE INCIDENCE OF RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 1,” INTERNATIONAL JOURNAL OF PEDIATRICS, vol. 6, no. 2 (50), pp. 7193–7200, 2018, [Online]. Available: https://sid.ir/paper/337389/en

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    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
    مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources
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