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Identification of a p.Cys33PhefsX36 mutation in an Iranian family withprofound biotinidase deficiency (BTD)
Parisa Khalilian1 , Sara Khalilian1 , Ali Bazrafshan1 , Masoud Garshasbi 2
1- Department of Medical Genetics, Pars Hospital Lab, Keshavarz Blvd, Tehran, Iran
2- Medical Genetics, Faculty of Medical Sciences, TarbiatModares University, Tehran, Iran
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Received: 2013/10/18 | Accepted: 2014/01/1 | Published: 2014/01/15
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