PMC:4572578 / 19974-21485 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4572578","sourcedb":"PMC","sourceid":"4572578","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4572578","text":"ID Sex NBAS Mutations Protein Levels Fibroblasts Clinical Features\ncDNA (NM_015909.3), Protein (NP_056993.2) NBAS p31 AO Age Last Crisis Number of ALF Age Last Visit Other Clinical Findings\nF1:II.1 F c.[558_560del];[686dup], p.[Ile187del];[Ser230Glnfs∗4] 21% 27% 21 14 9/12 years 2 18 years none reported\nF2:II.1 F c.[2708T\u003eG];[2708T\u003eG], p.[Leu903Arg];[Leu903Arg] 22% 30% 7 21 1/12 years 7 22 years acute renal failure, epilepsy\nF3:II.1 F c.[603_605del];[3164T\u003eC], p.[Leu202del];[Leu1055Pro] 20% 38% 10 11 7/12 years 5 18 years celiac disease\nF4:II.3 F c.[2708T\u003eG];[2827G\u003eT], p.[Leu903Arg];[Glu943∗] 26% 38% 8 ND ND 37 years none reported\nF5:II.2 M c.[3010C\u003eT];[3164T\u003eC], p.[Arg1004∗];[Leu1055Pro]; 18% 33% 7 9 10/12 years 10 14 years cardiomyopathy\nF6:II.1 M c.1533_1545del];[2951T\u003eG], p.[Ile512Thrfs∗4];[Ile984Ser] ND ND 18 3 11/12 years 5 3 years none reported\nF7:II.1 F c.[1042C\u003eT];[2203−3C\u003eG], p.[Pro348Ser];[?] 32% ND 11 6 7/12 years 4 9 years none reported\nF7:II.2 F c.[1042C\u003eT];[2203−3C\u003eG], p.[Pro348Ser];[?] 36% ND 6 8/12 years 6 8/12 years 1 11 years erythema nodosum, Crohn’s disease\nF8:II.2 M c.[1187G\u003eA];[2330C\u003eA], p.[Trp396∗];[Pro777His] ND ND 21 3 years 1 8 years none reported\nF9:II.2 F c.[118−2A\u003eG];[2524G\u003eT], p.[?(;)Val842Phe] ND ND 18 2 2/12 years 3 4 years none reported\nF10:II.1 F c.[686dup];[3164T\u003eC], p.[Ser230Glnfs∗4];[Leu1055Pro] ND ND 4 5 10/12 years 5 18 years 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