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Page 1
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Kaul H, Kabir F, Rauf B, Fatima F, Nadeem R, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: rauf b. PLoS One. 2016 Nov 4;11(11):e0162620. doi: 10.1371/journal.pone.0162620. eCollection 2016. PLoS One. 2016. PMID: 27814360 Free PMC article.
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Al Obaisi S, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: rauf b. PLoS One. 2016 Dec 9;11(12):e0167562. doi: 10.1371/journal.pone.0167562. eCollection 2016. PLoS One. 2016. PMID: 27936067 Free PMC article.
Mutations in CERKL and RP1 cause retinitis pigmentosa in Pakistani families.
Nadeem R, Kabir F, Li J, Gradstein L, Jiao X, Rauf B, Naeem MA, Assir MZ, Riazuddin S, Ayyagari R, Hejtmancik JF, Riazuddin SA. Nadeem R, et al. Among authors: rauf b. Hum Genome Var. 2020 May 12;7:14. doi: 10.1038/s41439-020-0100-8. eCollection 2020. Hum Genome Var. 2020. PMID: 32411380 Free PMC article.
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomes.
Ali M, Khan SY, Rodrigues TA, Francisco T, Jiao X, Qi H, Kabir F, Irum B, Rauf B, Khan AA, Mehmood A, Naeem MA, Assir MZ, Ali MH, Shahzad M, Abu-Amero KK, Akram SJ, Akram J, Riazuddin S, Riazuddin S, Robinson ML, Baes M, Azevedo JE, Hejtmancik JF, Riazuddin SA. Ali M, et al. Among authors: rauf b. Hum Genet. 2021 Apr;140(4):649-666. doi: 10.1007/s00439-020-02238-z. Epub 2021 Jan 2. Hum Genet. 2021. PMID: 33389129
[No title available]
[No authors listed] [No authors listed] PMID: 33419964
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.
Irum B, Khan SY, Ali M, Daud M, Kabir F, Rauf B, Fatima F, Iqbal H, Khan AO, Obaisi SA, Naeem MA, Nasir IA, Khan SN, Husnain T, Riazuddin S, Akram J, Eghrari AO, Riazuddin SA. Irum B, et al. Among authors: rauf b. PLoS One. 2017 Mar 9;12(3):e0173719. doi: 10.1371/journal.pone.0173719. eCollection 2017. PLoS One. 2017. PMID: 28278293 Free PMC article.
27 results