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Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family Cover

Novel mutation in the COL11A1 gene causing Marshall-Stickler syndrome in three generations of a Bulgarian family

Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 1 (June 2021)
By: M Mladenova,  T Todorov,  L Grozdanova,  V Mitev and  A Todorova  
Open Access
|Jul 2021

Authors

M Mladenova

mihaela.mladenova@gmail.com

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
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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
Keywords:
gene,
Marshall-Stickler syndrome,
Midface hypoplasia,
Splice-site mutation
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 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.

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