A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report

Journal article

Open access

Peer reviewed

Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh and Majid Yavarian

BMC medical genetics, Vol.21(1), pp.1-138

2020-06-29

PMID: 32600357

Abstract

Dihidropyrimidnase deficiency (DHP deficiency)

Novel stop gain mutation

DPYS

Case Report

url

https://doi.org/10.1186/s12881-020-01070-6View

Published (Version of record) Open

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.111 Liver & Colon Cancer; 1.111.557 Metastatic Colorectal Cancer
Web Of Science research areas: Genetics & Heredity
ESI research areas: Molecular Biology & Genetics

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Title: A novel stop-gain mutation in DPYS gene causing Dihidropyrimidinase deficiency, a case report
Creators: Malihe Mirzaei - Shiraz, Postal Code: 7134767617 Iran
Arghavan Kavosi - Shiraz, Postal Code: 7134767617 Iran
Mahboobeh Sharifzadeh - Department of Biology, Islamic Azad University, Arsanjan Branch, Arsanjan, Iran
Ghazale Mahjoub - Shiraz, Postal Code: 7134767617 Iran
Mohammad Ali Faghihi - Shiraz, Postal Code: 7134767617 Iran
Parham Habibzadeh - Shiraz, Postal Code: 7134767617 Iran
Majid Yavarian - Shiraz, Postal Code: 7134767617 Iran
Publication Details: BMC medical genetics, Vol.21(1), pp.1-138
Publisher: BioMed Central; London
Grant note: 940714 / ;
Academic Unit: Miller School of Medicine; UMMG Dept of Psychiatry & Behavioral Sciences
Language: English
Resource Type: Journal article
PMID: 32600357
Record Identifier: 991031576456802976