New CTSA mutation in early infantile galactosialidosis
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| Veröffentlicht in: | Pediatrics international 2018-08, Vol.60 (8), p.761-762 |
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| container_title | Pediatrics international |
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| creator | Aldámiz‐Echevarría, Luis Couce, M. Luz Villate, Olatz Fernández‐Marmiesse, Ana Piñán, M. Ángeles |
| description | |
| doi_str_mv | 10.1111/ped.13604 |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 1328-8067 |
| ispartof | Pediatrics international, 2018-08, Vol.60 (8), p.761-762 |
| issn | 1328-8067 1442-200X |
| language | eng |
| recordid | cdi_proquest_miscellaneous_2067885477 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Cathepsin A - genetics CTSA mutation early infantile galactosialidosis High-Throughput Nucleotide Sequencing - methods Humans Infant Infant, Newborn lysosomal storage disease Lysosomal Storage Diseases - diagnosis Lysosomal Storage Diseases - genetics Male Mutation next‐generation sequencing Pediatrics |
| title | New CTSA mutation in early infantile galactosialidosis |
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