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BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation

dc.contributor.authorKaraca, Meryem
dc.contributor.authorErcan, Mujgan
dc.contributor.authorAtas, Nurgul
dc.contributor.authorGonel, Ataman
dc.contributor.authorOz, Ozlem
dc.date.accessioned2021-12-10T12:33:18Z
dc.date.available2021-12-10T12:33:18Z
dc.date.issued2021
dc.identifier.citationOz O., Karaca M., Atas N., Gonel A., Ercan M., "BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation", JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN, cilt.31, sa.7, ss.780-785, 2021
dc.identifier.issn1022-386X
dc.identifier.othervv_1032021
dc.identifier.otherav_c4eeaa59-1551-4958-95e7-e5fdbdf476f3
dc.identifier.urihttp://hdl.handle.net/20.500.12627/174132
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/c4eeaa59-1551-4958-95e7-e5fdbdf476f3/file
dc.identifier.urihttps://doi.org/10.29271/jcpsp.2021.07.780
dc.description.abstractObjective: 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.
dc.language.isoeng
dc.subjectPathophysiology
dc.subjectInternal Medicine
dc.subjectAssessment and Diagnosis
dc.subjectMedicine (miscellaneous)
dc.subjectGeneral Medicine
dc.subjectHealth Sciences
dc.subjectFundamentals and Skills
dc.subjectGeneral Health Professions
dc.subjectFamily Practice
dc.subjectTemel Tıp Bilimleri
dc.subjectSağlık Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectTIP, GENEL & İÇECEK
dc.titleBTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
dc.typeMakale
dc.relation.journalJCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN
dc.contributor.departmentHarran Üniversitesi , ,
dc.identifier.volume31
dc.identifier.issue7
dc.identifier.startpage780
dc.identifier.endpage785
dc.contributor.firstauthorID2743245


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