Associated Papers
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Alström syndrome with a novel mutation of ALMS1 and Graves' hyperthyroidism: A case report and review of the literature.
Zhang JJ et al.
World Journal of Clinical Cases, 2021
Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
Saadah OI et al.
Frontiers in Pediatrics, 2021
Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.
Khan AO et al.
Ophthalmology, 2015
Alström syndrome--an uncommon cause of early childhood retinal dystrophy.
Sheck L et al.
Bmj Case Reports, 2011
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
Pereiro I et al.
European Journal of Human Genetics : Ejhg, 2011
Alstrom syndrome (OMIM 203800): a case report and literature review.
Joy T et al.
Orphanet Journal of Rare Diseases, 2007
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.
Marshall JD et al.
Human Mutation, 2007
Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.
Ozgül RK et al.
Clinical Genetics, 2007
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