Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features
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Lippincott Williams and Wilkins
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Alagille syndrome, Humans, Jagged-1 protein, Membrane proteins, Mutation, Complementary dna, Gamma glutamyltransferase, Protein jagged 1, Jag1 protein, human, Membrane protein, Adult, Alternative rna splicing, Aortic coarctation, Article, Bioinformatics, Case report, Cholestasis, Clinical article, Eye examination, Fallot tetralogy, Female, Frameshift mutation, Gene deletion, Gene frequency, Gene mutation, Genetic variability, Genome analysis, Human, Hypertension, Illumina sequencing, Intracytoplasmic sperm injection, Intrauterine growth retardation, Kidney graft, Lebanese, Liver disease, Male, Molecular genetics, Ovary function, Pedigree analysis, Protein expression, Pulmonary valve stenosis, Renal artery stenosis, Reverse transcription polymerase chain reaction, Rna extraction, Sanger sequencing, Sequence alignment, Single nucleotide polymorphism, Splenectomy, Stop codon, Whole exome sequencing, Genetics, Metabolism