Amets Sáenz
Biographic Data
| ID | 4787281 |
|---|---|
| NAME | Amets Sáenz |
| GIVEN NAMES | Amets |
| FAMILY NAME | Sáenz |
| SIGNATURE | SAENZ A |
| ORCID | 0000-0002-0704-1150 |
| VERIFIED | Yes |
| TOTAL WORKS | 1 |
| TOTAL CITATIONS | 1 |
| WORKS AS AUTHOR | 1 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2004 |
| LATEST PUBLICATION YEAR | 2004 |
| H-INDEX | 1 |
A Common Haplotype Associated with the Basque 2362AG-TCATCT Mutation in the Muscular Calpain-3 Gene
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene. Of those, 2362AG --> TCATCT is particularly prevalent in Basque patients, and this mutation was hypothesized to have arisen in the Basque Country. To explore the natural history of this mutation, we genotyped 65 Basque and non-Basque patients with LGMD2A who carry the 2362AG --> TCATCT mutation for four microsatellites within or f…
A Common Haplotype Associated with the Basque 2362AG-TCATCT Mutation in the Muscular Calpain-3 Gene
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene. Of those, 2362AG --> TCATCT is particularly prevalent in Basque patients, and this mutation was hypothesized to have arisen in the Basque Country. To explore the natural history of this mutation, we genotyped 65 Basque and non-Basque patients with LGMD2A who carry the 2362AG --> TCATCT mutation for four microsatellites within or f…
A Common Haplotype Associated with the Basque 2362AG-TCATCT Mutation in the Muscular Calpain-3 Gene
Limb-girdle muscular dystrophy type 2A (LGMD2A) is caused by any of over 150 mutations in the calpain-3 (CAPN3) gene. Of those, 2362AG --> TCATCT is particularly prevalent in Basque patients, and this mutation was hypothesized to have arisen in the Basque Country. To explore the natural history of this mutation, we genotyped 65 Basque and non-Basque patients with LGMD2A who carry the 2362AG --> TCATCT mutation for four microsatellites within or f…
Biology (1 work) · Calpain Protease Function and Regulation (1 work) · Gene (1 work) · Gene flow (1 work) · Gene mutation (1 work) · Genetic Neurodegenerative Diseases (1 work) · Genetic variation (1 work) · Genetics (1 work) · Genetics (1 work) · Genotype (1 work)