New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
Reference43 articles.
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4. Ullrich scleroatonic muscular dystrophy is caused by recessive mutations in collagen type VI;Camacho Vanegas;Proc Natl Acad Sci USA,2001
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2. Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy;Molecular Therapy - Nucleic Acids;2024-06
3. The recurrent deep intronic pseudoexon-inducing variantCOL6A1c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy;2024-03-29
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