Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family
By: M Mladenova, T Todorov, L Grozdanova, V Mitev and A Todorova
Authors
M Mladenova
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica,”, Sofia, Bulgaria
T Todorov
Genetic Medico-Diagnostic Laboratory “Genica,”, Sofia, Bulgaria
L Grozdanova
Department of Medical Genetics, University Hospital “St. George,”, Plovdiv, Bulgaria
V Mitev
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria
A Todorova
Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria
Genetic Medico-Diagnostic Laboratory “Genica,”, Sofia, Bulgaria
DOI: https://doi.org/10.2478/bjmg-2021-0001 | Journal eISSN: 2199-5761
Language: English
Page range: 95 - 98
Published on: Jul 27, 2021
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
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© 2021 M Mladenova, T Todorov, L Grozdanova, V Mitev, A Todorova, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.