Pages that link to "Q33543362"

The following pages link to Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies (Q33543362):

Displaying 12 items.

• Congenital muscular dystrophies: a brief review (Q28255519) (← links)
• Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
• Association of an intronic, but not any exonic, FRMD4B sequence variant and heart failure (Q34078221) (← links)
• The expanded collagen VI family: new chains and new questions (Q34358567) (← links)
• Detection of clinically relevant exonic copy-number changes by array CGH. (Q35172112) (← links)
• ColVI myopathies: where do we stand, where do we go? (Q35290709) (← links)
• Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia (Q35689799) (← links)
• The collagen VI-related myopathies: muscle meets its matrix (Q37555710) (← links)
• Deep intronic mutations and human disease (Q39301532) (← links)
• Novel FOXF1 deep intronic deletion causes lethal lung developmental disorder, alveolar capillary dysplasia with misalignment of pulmonary veins (Q42145574) (← links)
• Antisense-induced messenger depletion corrects a COL6A2 dominant mutation in Ullrich myopathy (Q42412623) (← links)
• Macrophages: a minimally invasive tool for monitoring collagen VI myopathies (Q44500645) (← links)