Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

This study investigates the genetic basis of retinal diseases in four consanguineous families from Pakistan, focusing on mutations in the CNGA3, CACNA1F, and RPGRIP1 genes that are implicated in retinal dysfunctions such as achromatopsia, congenital stationary night blindness, and retinal dystrophie...

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में बचाया:

ग्रंथसूची विवरण
मुख्य लेखकों:	Jahangir Khan Tareen, Hamid Khan, Shamsul Ghani, Saeed Khan, Bakhtawar Khan, Yurong Wu, Muhammad Ajmal Khan, Syed Shahab Ud Din Shah, Abrar Hussain, Mubin Mustafa Kiyani, Shahid Bashir, Atta Ur Rehman, Muhammad Imran Shabbir, Hong-Tao Li
स्वरूप:	Artigo
भाषा:	Inglês
प्रकाशित:	Public Library of Science (PLoS) 2025-01-01
श्रृंखला:	PLoS ONE
ऑनलाइन पहुंच:	https://doi.org/10.1371/journal.pone.0327176
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Whole exome sequencing reveals pathogenic variants in CNGA3, CACNA1F, and RPGRIP1 in consanguineous Pakistani families with diverse retinal phenotypes.

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