Associated Papers
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Transposon clusters as substrates for aberrant splice-site activation.
Alvarez MEV et al.
Rna Biology, 2021
32965162 (PubMed )
Supplement: KRNB_A_1805909_SM0818.zip › Supplementary_information › Supplementary_Table_S1.pdf
Clinical and genetic features of lysinuric protein intolerance in Japan.
Noguchi A et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
The first Korean case of lysinuric protein intolerance: presented with short stature and increased somnolence.
Ko JM et al.
Journal of Korean Medical Science, 2012
Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
Puomila K et al.
Molecular Genetics and Metabolism, 2007
First reported case of lysinuric protein intolerance (LPI) in Lithuania, confirmed biochemically and by DNA analysis.
Cimbalistiene L et al.
Journal of Applied Genetics, 2007
Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP et al.
Human Mutation, 2005
Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuria.
Font MA et al.
Human Molecular Genetics, 2001
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