Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus - Strych, Lukáš; Černá, Monika; Hejnalová, Markéta; Zavoral, Tomáš; Komrsková, Pavla; Tejcová, Jitka; Bitar, Ibrahim; Sládková, Eva; Sýkora, Josef; Šubrt, Ivan (BMC medical genomics, 2024)
Keywords: Analysis; AVPR2 deletion; AVPR2 gene; Biomedical and Life Sciences; Biomedicine; Breakpoint analysis; Breakpoints; Care and treatment; Development and progression; Diabetes; Diabetes insipidus; Diabetes Insipidus, Nephrogenic - genetics; Diabetes Mellitus; DNA sequencing; Dosage and administration; Failure to thrive; Female; Gene Deletion; Gene Expression; Gene mapping; Genetic aspects; Genetic counseling; Genetic screening; Genetic Testing; Heterozygote; Human Genetics; Humans; Hydrochlorothiazide; Kidney; Long-read sequencing; Male; Methods; Microarrays; Nephrogenic diabetes insipidus; Nucleotide sequencing; PacBio; Pediatrics; Polyuria; Rare Diseases; Urine; Czech Republic; Long-read sequencing; AVPR2 deletion; Breakpoint analysis; Nephrogenic diabetes insipidus; PacBio