BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
About this item
Full title
Author / Creator
Publisher
Pakistan: College of Physicians and Surgeons Pakistan
Journal title
Language
English
Formats
Publication information
Publisher
Pakistan: College of Physicians and Surgeons Pakistan
Subjects
More information
Scope and Contents
Contents
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.
Descriptive study.
Department of Medical Genetics and Pediatric Metabolism Outpatient Clinic, Faculty of Medicine, Harran University, between January...
Alternative Titles
Full title
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
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Author / Creator
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Record Identifier
TN_cdi_proquest_miscellaneous_2552983136
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2552983136
Other Identifiers
ISSN
1022-386X
E-ISSN
1681-7168
DOI
10.29271/jcpsp.2021.07.780
