Herimela Solomon-Degefa
2PUBLICATIONS
60CO-AUTHORS
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Publications (2)
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|Apr 14, 2025
The UCMD-Causing COL6A1 (c.930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains.Carolin D Freiburg, Herimela Solomon-Degefa, Patrick Freiburg
|Apr 08, 2024
The recurrent deep intronic pseudoexon-inducing variant COL6A1 c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy.A Reghan Foley, Véronique Bolduc, Fady Guirguis
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Frequent Collaborators
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Carsten G Bönnemann
2 joint publications
Francesco Muntoni
2 joint publications
Raimund Wagener
2 joint publications
Alvise Schiavinato
1 joint publications
Véronique Bolduc
1 joint publications
Fady Guirguis
1 joint publications
Mats Paulsson
1 joint publications
Rotem Orbach
1 joint publications
Apurva Sarathy
1 joint publications
Beryl B Cummings
