Pages that link to "Q50547039"
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The following pages link to cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark (Q50547039):
Displaying 11 items.
- Prevalence of genetic muscle disease in Northern England: in-depth analysis of a muscle clinic population (Q33685609) (← links)
- Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. (Q34207404) (← links)
- Phenotypic and genetic spectrum of Danish patients with ABCA4-related retinopathy (Q38328874) (← links)
- Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls (Q38434135) (← links)
- Transcriptional and translational effects of intronic CAPN3 gene mutations (Q42104319) (← links)
- Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression (Q44039213) (← links)
- A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy (Q48695686) (← links)
- Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect (Q92640099) (← links)
- A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity (Q96585680) (← links)
- A molecular diagnosis of LGMDR1 established by RNA sequencing (Q97531343) (← links)
- Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay (Q97552417) (← links)