A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree

BACKGROUND: To investigate the molecular defects in a four-generation Chinese pedigree affected with Thiel-Behnke corneal dystrophy (TBCD). And to further study the relationship between genetic mutation and clinical manifestations. METHODS: Individuals of the pedigree were recruited for extensive op...

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Detalles Bibliográficos
Autores principales: Yu, Yinhui, Qiu, Peijin, Zhu, Yanan, Li, Jinyu, Wu, Menghan, Zhang, Buyi, Yao, Ke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605025/
https://www.ncbi.nlm.nih.gov/pubmed/26464103
http://dx.doi.org/10.1186/s12886-015-0121-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4605025/
https://www.ncbi.nlm.nih.gov/pubmed/26464103
http://dx.doi.org/10.1186/s12886-015-0121-0

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