Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
- Resource Type
- Source
- Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname - Subject
0301 basic medicine targeted exome analysis Neuromuscular disease Medizin Anoctamins 030105 genetics & heredity Bioinformatics 3124 Neurology and psychiatry DNA sequencing Article 03 medical and health sciences genetic diagnosis limb-girdle weakness neuromuscular disease next-generation sequencing 3123 Gynaecology and paediatrics Exome Sequencing Medicine Humans Exome Gene Genetics (clinical) Exome sequencing SGCA RYR1 Genetic heterogeneity business.industry Sciences bio-médicales et agricoles medicine.disease Phenotype 3. Good health 030104 developmental biology Muscular Dystrophies, Limb-Girdle Glucosyltransferases Human medicine business - Language
- English
- ISSN
- 1098-3600