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PubMed:10721669 JSONTXT 19 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-75 Sentence denotes Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
T1 0-75 Sentence denotes Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
TextSentencer_T2 76-264 Sentence denotes Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs.
T2 76-264 Sentence denotes Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, and corneas, and culminating in copper toxication in these organs.
TextSentencer_T3 265-368 Sentence denotes In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.
T3 265-368 Sentence denotes In this study, we analyzed mutations of the responsible gene, ATP7B, in four Japanese patients with WD.
TextSentencer_T4 369-490 Sentence denotes By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel.
T4 369-490 Sentence denotes By direct sequencing, we identified five mutations, of which two were novel, and 16 polymorphisms, of which 6 were novel.
TextSentencer_T5 491-598 Sentence denotes The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected.
T5 491-598 Sentence denotes The mutations 2871delC and 2513delA shift the reading frame so that truncated abnormal protein is expected.
TextSentencer_T6 599-862 Sentence denotes In contrast to these mutations found in patients with hepatic-type of early onset, the mutations A874V, R778L, and 3892delGTC were either missense mutations or in frame 1-amino acid deletion, and occurred in the patients with hepato-neurologic type of late onset.
T6 599-862 Sentence denotes In contrast to these mutations found in patients with hepatic-type of early onset, the mutations A874V, R778L, and 3892delGTC were either missense mutations or in frame 1-amino acid deletion, and occurred in the patients with hepato-neurologic type of late onset.
TextSentencer_T7 863-976 Sentence denotes The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients.
T7 863-976 Sentence denotes The mutations 2871delC and R778L have been previously reported in a relatively large number of Japanese patients.
TextSentencer_T8 977-1084 Sentence denotes In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world.
T8 977-1084 Sentence denotes In particular, R778L is known to be more prevalent in Asian countries than in other countries of the world.
TextSentencer_T9 1085-1194 Sentence denotes Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner.
T9 1085-1194 Sentence denotes Our data are compatible with the hypothesis that the mutations tend to occur in a population-specific manner.
TextSentencer_T10 1195-1362 Sentence denotes Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients.
T10 1195-1362 Sentence denotes Therefore, the accumulation of the types of mutations in Japanese patients with WD will facilitate the fast and effective genetic diagnosis of WD in Japanese patients.