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Article

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

PloS one - 1 Jan 2022

Iqbal Afia, Naz Shagufta, Kaul Haiba, Sharif Saima, Khushbakht Aysha, Naeem Muhammad Asif, Iqtedar Mehwish, Kaleem Afshan, Firasat Sabika, Manzoor Farkhanda

Abstract excerpt

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 with the help of ophthalmologists. Blood samples were collected from affected and unaffected members of the enrolled...

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Identifiers

PMID: 36037197
DOI: 10.1371/journal.pone.0273685
PMCID: PMC9423612

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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