> top > projects > sentences > docs > PubMed:19300893 > annotations

PubMed:19300893 JSONTXT 11 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
TextSentencer_T1 0-117 Sentence denotes A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.
T1 0-117 Sentence denotes A recurrent mutation c.617G>A in the ACVR1 gene causes fibrodysplasia ossificans progressiva in two Chinese patients.
TextSentencer_T2 118-379 Sentence denotes Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications.
T2 118-379 Sentence denotes Fibrodysplasia ossificans progressiva (FOP; OMIM 135100) is a rare heritable disorder of connective tissue characterized by congenital malformations of the great toes and recurrent episodes of painful soft tissue swelling that lead to heterotopic ossifications.
TextSentencer_T3 380-548 Sentence denotes Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease.
T3 380-548 Sentence denotes Recent studies have shown that the ACVR1 (activin A receptor, type I; OMIM 102576) gene, which encodes the BMP type I receptor protein, is responsible for this disease.
TextSentencer_T4 549-783 Sentence denotes We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum.
T4 549-783 Sentence denotes We observed two Chinese patients who suffered from progressive pain and ankylosis of major joints with congenital bilateral hallus valgus malformation, neck stiffness, and several posttraumatic ossified lesions on the head and dorsum.
TextSentencer_T5 784-827 Sentence denotes Both patients were diagnosed as having FOP.
T5 784-827 Sentence denotes Both patients were diagnosed as having FOP.
TextSentencer_T6 828-908 Sentence denotes This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients.
T6 828-908 Sentence denotes This study aimed to investigate the ACVR1 gene mutation in Chinese FOP patients.
TextSentencer_T7 909-1096 Sentence denotes Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients.
T7 909-1096 Sentence denotes Direct sequence analysis of genomic DNA and restriction enzyme digestion demonstrated the presence of a single heterozygous c.617G>A (p.R206H) mutation in the ACVR1 gene in both patients.
TextSentencer_T8 1097-1203 Sentence denotes This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.
T8 1097-1203 Sentence denotes This mutation is first reported in Chinese patients with FOP and it was de novo in both affected families.