Additional file 1 of Feasibility of a genotyping system for the diagnosis of alpha1 antitrypsin deficiency: a multinational cross-sectional analysis
Figure 1S. Evolution over time of genetic study requests in Spain, LATAM and Turkey. Figure 2S. Evolution over time of requests for genetic studies by LATAM countries. Figure 3S. Distribution of sample types by geographical area. Figure 4S. Time elapsed between different steps by geographical area....
| Autores: | , , , , , , , , , |
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| Formato: | conjunto de datos |
| Fecha de publicación: | 2022 |
| País: | España |
| Recursos: | Consejo Superior de Investigaciones Científicas (CSIC) |
| Repositorio: | DIGITAL.CSIC. Repositorio Institucional del CSIC |
| OAI Identifier: | oai:digital.csic.es:10261/331809 |
| Acesso em linha: | http://hdl.handle.net/10261/331809 |
| Access Level: | acceso abierto |
| Palavra-chave: | Alpha1 antitrypsin deficiency Diagnosis Buccal swab Dried blood spots Genotyping |
| Resumo: | Figure 1S. Evolution over time of genetic study requests in Spain, LATAM and Turkey. Figure 2S. Evolution over time of requests for genetic studies by LATAM countries. Figure 3S. Distribution of sample types by geographical area. Figure 4S. Time elapsed between different steps by geographical area. Figure 5S. Allele distribution according to the different genotyping reasons in different Latin American countries. Table 1S. Description of the allelic variants and associated alleles tested by A1AT Genotyping Test; Information about the activity of the A1AT protein expressed. Table 2S. Cases in which sequencing revealed additional mutation from direct genotyping. |
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