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Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan

AIM: To identify the molecular basis of Congenital Hereditary Endothelial Dystrophy CHED caused by mutations in SLC4A11, in the consanguineous Pakistani families. METHODS: A total of 7 consanguineous families affected with Congenital Hereditary Endothelial Dystrophy were diagnosed and registered wit...

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Detalles Bibliográficos
Autores principales:	Iqbal, Afia, Naz, Shagufta, Kaul, Haiba, Sharif, Saima, Khushbakht, Aysha, Naeem, Muhammad Asif, Iqtedar, Mehwish, Kaleem, Afshan, Firasat, Sabika, Manzoor, Farkhanda
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2022
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9423612/ https://www.ncbi.nlm.nih.gov/pubmed/36037197 http://dx.doi.org/10.1371/journal.pone.0273685

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