Vitamin D 1 -Hydroxylase Gene Mutations in Patients with 1 -Hydroxylase Deficiency
نویسندگان
چکیده
Department of Pediatrics (C.J.K., L.E.K., F.P., N.H., W.L.M., A.A.P.), University of California, San Francisco, San Francisco, California 94143; Pediatric Nephrology (A.S.), MassGeneral Hospital for Children, Massachusetts General Hospital and Harvard School of Medicine, Boston, Massachusetts 02114; and Department of Pediatrics (Y.C.), Seoul National University Children’s Hospital, Seoul 110-744, Korea
منابع مشابه
Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from Kermanshah, Hamadan, and Lorestan provinces) during 2014-2016. Additionally, the results were compared with similar studies in Iran. Nucleotide sequen...
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تاریخ انتشار 2007