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Clinical and Experimental Optometry Volume 99, 2016 - Issue 1
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Research Paper

Missense mutation in SLC4A11 in two Pakistani families affected with congenital hereditary endothelial dystrophy (CHED2)

Haiba KaulDepartment of Biochemistry, University of Health Sciences, Lahore, Pakistan,
, PhD,
Maryam SumanDepartment of Biotechnology, Kinnaird College, Lahore, Pakistan,
, BSc (Hons),
Zoya KhanDepartment of Biotechnology, Kinnaird College, Lahore, Pakistan,
, BSc (Hons),
Muhammad Ikram UllahDepartment of Biochemistry, University of Health Sciences, Lahore, Pakistan,;Department of Biochemistry, Faculty of Biological Sciences, Quaid‐i‐Azam University, Islamabad, Pakistan,
, MPhil,
Usman Ali AshfaqDepartment of Bioinformatics and Biotechnology, Government College University Faisalabad, Pakistan,
, PhD &
Sobia IdreesDepartment of Bioinformatics and Biotechnology, Government College University Faisalabad, Pakistan,
, BSc (Hons)
Pages 73-77 | Received 19 Aug 2014, Accepted 06 Nov 2014, Published online: 15 Apr 2021

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Abha Gour, Aastha Garg, Shailja Tibrewal, Julie Pegu, Sonal Gupta, Umang Mathur & Virender Sangwan. (2023) Corneal transplantation in children - when and how?. Expert Review of Ophthalmology 18:1, pages 57-69.
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Articles from other publishers (11)

Khazeema Yousaf, Sadaf Naz, Asma Mushtaq, Elizabeth Wohler, Nara Sobreira, Bo-Man Ho, Li-Jia Chen, Wai-Kit Chu & Rasheeda Bashir. (2023) Exome Sequencing Reveals SLC4A11 Variant Underlying Congenital Hereditary Endothelial Dystrophy (CHED2) Misdiagnosed as Congenital Glaucoma. Genes 14:2, pages 310.
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Afia Iqbal, Shagufta Naz, Haiba Kaul, Saima Sharif, Aysha Khushbakht, Muhammad Asif Naeem, Mehwish Iqtedar, Afshan Kaleem, Sabika Firasat & Farkhanda Manzoor. (2022) Mutational analysis in sodium-borate cotransporter SLC4A11 in consanguineous families from Punjab, Pakistan. PLOS ONE 17:8, pages e0273685.
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Zohra Chibani, Imen Zone Abid, Peter Söderkvist, Jamel Feki & Mounira Hmani Aifa. (2022) Autosomal recessive congenital hereditary corneal dystrophy associated with a novel SLC4A11 mutation in two consanguineous Tunisian families . British Journal of Ophthalmology 106:2, pages 281-287.
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Sabika Firasat, Dur-e-Shawar, Wajid Ali Khan, Ume Sughra, Nousheen, Haiba Kaul, Shagufta Naz, Bushra Noreen, Rutaba Gul & Kiran Afshan. (2021) SLC4A11 mutations causative of congenital hereditary endothelial dystrophy (CHED) progressing to Harboyan syndrome in consanguineous Pakistani families. Molecular Biology Reports 48:11, pages 7467-7476.
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Wenlin Zhang, Ricardo Frausto, Doug D. Chung, Christopher G. Griffis, Liyo Kao, Angela Chen, Rustam Azimov, Alapakkam P. Sampath, Ira Kurtz & Anthony J. Aldave. (2020) Energy Shortage in Human and Mouse Models of SLC4A11 -Associated Corneal Endothelial Dystrophies . Investigative Opthalmology & Visual Science 61:8, pages 39.
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Liyo Kao, Rustam Azimov, Xuesi M. Shao, Natalia Abuladze, Debra Newman, Hristina Zhekova, Sergei Noskov, Alexander Pushkin & Ira Kurtz. (2020) SLC4A11 function: evidence for H + (OH − ) and NH 3 -H + transport . American Journal of Physiology-Cell Physiology 318:2, pages C392-C405.
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Haiba Kaul, Shabbir Hussain, Ghulam Mustafa & Shagufta Naz. (2017) Fine mapping of chromosome 9 locus associated with congenital cataract. International Ophthalmology 38:3, pages 1187-1192.
Crossref
Kumari Alka & Joseph R. Casey. (2018) Molecular phenotype of SLC4A11 missense mutants: Setting the stage for personalized medicine in corneal dystrophies. Human Mutation 39:5, pages 676-690.
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Katherine E. Badior, Kumari Alka & Joseph R. Casey. (2017) SLC4A11 Three-Dimensional Homology Model Rationalizes Corneal Dystrophy-Causing Mutations. Human Mutation 38:3, pages 279-288.
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Zia Chaudhuri & Birgit Lorenz. 2017. Advances in Vision Research, Volume I. Advances in Vision Research, Volume I 375 389 .
Sampath K. LoganathanHans-Peter Schneider, Patricio E. Morgan, Joachim W. Deitmer & Joseph R. Casey. (2016) Functional assessment of SLC4A11, an integral membrane protein mutated in corneal dystrophies. American Journal of Physiology-Cell Physiology 311:5, pages C735-C748.
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