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Investigating the Molecular Basis of Retinal Degeneration in a Familial Cohort of Pakistani Decent by Exome Sequencing.
PLoS One. 2015 Sep 9;10(9):e0136561. doi: 10.1371/journal.pone.0136561. eCollection 2015.
PLoS One. 2015.
PMID: 26352687
Free PMC article.
Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness.
Naeem MA, Gottsch AD, Ullah I, Khan SN, Husnain T, Butt NH, Qazi ZA, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
Naeem MA, et al. Among authors: gottsch ad.
Mol Vis. 2015 Oct 31;21:1261-71. eCollection 2015.
Mol Vis. 2015.
PMID: 26628857
Free PMC article.
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Loss of function mutations in RP1 are responsible for retinitis pigmentosa in consanguineous familial cases.
Kabir F, Ullah I, Ali S, Gottsch AD, Naeem MA, Assir MZ, Khan SN, Akram J, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA.
Kabir F, et al. Among authors: gottsch ad.
Mol Vis. 2016 Jun 10;22:610-25. eCollection 2016.
Mol Vis. 2016.
PMID: 27307693
Free PMC article.
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