Zobrazeno 1 - 4
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pro vyhledávání: '"c.2335T>G"'
Autor:
Dastsooz, Hassan a, Dehghani, Seyed Mohsen b, Imanieh, Mohammad Hadi b, Haghighat, Mahmood b, Moini, Maryam c, Fardaei, Majid a, ⁎
Publikováno v:
In Gene 1 February 2013 514(1):48-53
Akademický článek
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Autor:
Manoochehri J, Masoumi Dehshiri R, Faraji H, Mohammadi S, Dastsooz H, Moradi T, Rezaei E, Sadeghi Kh, Majid Fardaei
Publikováno v:
Europe PubMed Central
Iranian Journal of Pediatric Hematology and Oncology
Iranian Journal of Pediatric Hematology and Oncology
Background Wilson disease (WD) is a rare autosomal recessive disorder, which leads to copper metabolism, due to mutations in ATP7B gene. The gene responsible for WD consists of 21 exons that span a genomic region of about 80 kb and encodes a copper t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::ebcbeffc010b8bcea6dff2912e72b198
http://europepmc.org/abstract/med/24734161
http://europepmc.org/abstract/med/24734161
Autor:
Manoochehri J; Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Comprehensive Medical Genetics Centre, Shiraz, Iran., Masoumi Dehshiri R; Health Policy Research Center, Shahid Sadoughi University of Medical Sciences and Health Services, Yazd, Iran., Faraji H; Comprehensive Medical Genetics Centre, Shiraz, Iran., Mohammadi S; Comprehensive Medical Genetics Centre, Shiraz, Iran., Dastsooz H; Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran ; Student Research Committee, Shiraz University of Medical Sciences, Shiraz, Iran., Moradi T; Comprehensive Medical Genetics Centre, Shiraz, Iran., Rezaei E; Comprehensive Medical Genetics Centre, Shiraz, Iran., Sadeghi Kh; Comprehensive Medical Genetics Centre, Shiraz, Iran., Fardaei M; Department of Medical Genetics, Medical School, Shiraz University of Medical Sciences, Shiraz, Iran ; Comprehensive Medical Genetics Centre, Shiraz, Iran ; Department of Molecular Medicine, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran.
Publikováno v:
Iranian journal of pediatric hematology and oncology [Iran J Ped Hematol Oncol] 2014; Vol. 4 (1), pp. 26-31. Date of Electronic Publication: 2014 Feb 20.