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Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis
OBJECTIVE: To evaluate the ophthalmic phenotypes associated with T-cell immune regulator 1 (TCIRG1) mutations in Chinese patients with infantile malignant osteopetrosis (IMO). METHODS AND ANALYSIS: 27 Chinese TCIRG1-related osteoporosis infants were enrolled using direct DNA sequencing of PCR-amplif...
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| Publicado no: | BMJ Open Ophthalmol |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6257380/ https://ncbi.nlm.nih.gov/pubmed/30539151 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjophth-2018-000180 |
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