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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2022
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Materias: | |
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 |