Article
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Jul 2021
Oz Ozlem, Karaca Meryem, Atas Nurgul, Gonel Ataman, Ercan Mujgan
Abstract excerpt
OBJECTIVE: To identify the biotinidase (BTD) gene mutations in patients with biotinidase deficiency in our region; and to determine the phenotype-genotype correlations in the presence of clinical findings. STUDY DESIGN: Descriptive study. PLACE AND DURATION OF STUDY: Department of Medical Genetics and Pediatric Metabolism Outpatient Clinic, Faculty of Medicine, Harran University, between January 2018 and June...
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