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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Detalles Bibliográficos
Autores principales: Cao, Wenhong, Wei, Wenbin, Wu, Qian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2018
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257380/
https://www.ncbi.nlm.nih.gov/pubmed/30539151
http://dx.doi.org/10.1136/bmjophth-2018-000180

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257380/
https://www.ncbi.nlm.nih.gov/pubmed/30539151
http://dx.doi.org/10.1136/bmjophth-2018-000180

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