BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation
Date
2021Author
Karaca, Meryem
Ercan, Mujgan
Atas, Nurgul
Gonel, Ataman
Oz, Ozlem
Metadata
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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.
URI
http://hdl.handle.net/20.500.12627/174132https://avesis.istanbul.edu.tr/api/publication/c4eeaa59-1551-4958-95e7-e5fdbdf476f3/file
https://doi.org/10.29271/jcpsp.2021.07.780
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