dc.contributor.author | Karaca, Meryem | |
dc.contributor.author | Ercan, Mujgan | |
dc.contributor.author | Atas, Nurgul | |
dc.contributor.author | Gonel, Ataman | |
dc.contributor.author | Oz, Ozlem | |
dc.date.accessioned | 2021-12-10T12:33:18Z | |
dc.date.available | 2021-12-10T12:33:18Z | |
dc.date.issued | 2021 | |
dc.identifier.citation | Oz 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.issn | 1022-386X | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_c4eeaa59-1551-4958-95e7-e5fdbdf476f3 | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/174132 | |
dc.identifier.uri | https://avesis.istanbul.edu.tr/api/publication/c4eeaa59-1551-4958-95e7-e5fdbdf476f3/file | |
dc.identifier.uri | https://doi.org/10.29271/jcpsp.2021.07.780 | |
dc.description.abstract | 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. | |
dc.language.iso | eng | |
dc.subject | Pathophysiology | |
dc.subject | Internal Medicine | |
dc.subject | Assessment and Diagnosis | |
dc.subject | Medicine (miscellaneous) | |
dc.subject | General Medicine | |
dc.subject | Health Sciences | |
dc.subject | Fundamentals and Skills | |
dc.subject | General Health Professions | |
dc.subject | Family Practice | |
dc.subject | Temel Tıp Bilimleri | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Klinik Tıp (MED) | |
dc.subject | Klinik Tıp | |
dc.subject | TIP, GENEL & İÇECEK | |
dc.title | BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation | |
dc.type | Makale | |
dc.relation.journal | JCPSP-JOURNAL OF THE COLLEGE OF PHYSICIANS AND SURGEONS PAKISTAN | |
dc.contributor.department | Harran Üniversitesi , , | |
dc.identifier.volume | 31 | |
dc.identifier.issue | 7 | |
dc.identifier.startpage | 780 | |
dc.identifier.endpage | 785 | |
dc.contributor.firstauthorID | 2743245 | |