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Id Subject Object Predicate Lexical cue
T1 0-95 Sentence denotes A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
T1 0-95 Sentence denotes A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
T2 96-232 Sentence denotes Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency.
T2 96-232 Sentence denotes Congenital adrenal hyperplasia (CAH) is a common recessive genetic disease caused mainly by steroid 21-hydroxylase (P450c21) deficiency.
T3 233-309 Sentence denotes Many forms of CAH exist resulting from various mutations of the CYP21B gene.
T3 233-309 Sentence denotes Many forms of CAH exist resulting from various mutations of the CYP21B gene.
T4 310-412 Sentence denotes We sequenced CYP21B cDNA from a normal person and its genes from a patient with simple virilizing CAH.
T4 310-412 Sentence denotes We sequenced CYP21B cDNA from a normal person and its genes from a patient with simple virilizing CAH.
T5 413-482 Sentence denotes When comparing several CYP21B sequences, we found it was polymorphic.
T5 413-482 Sentence denotes When comparing several CYP21B sequences, we found it was polymorphic.
T6 483-636 Sentence denotes In the patient, a single base substitution replaced Ile172 (ATC) with Asn (AAC) in one allele while Arg356 (CGG) was converted to Trp (TGG) in the other.
T6 483-636 Sentence denotes In the patient, a single base substitution replaced Ile172 (ATC) with Asn (AAC) in one allele while Arg356 (CGG) was converted to Trp (TGG) in the other.
T7 637-796 Sentence denotes A normal P450c21 cDNA clone was transfected into COS-1 cells to produce 21-hydroxylase activity toward its substrates, progesterone and 17-hydroxyprogesterone.
T7 637-796 Sentence denotes A normal P450c21 cDNA clone was transfected into COS-1 cells to produce 21-hydroxylase activity toward its substrates, progesterone and 17-hydroxyprogesterone.
T8 797-923 Sentence denotes Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone.
T8 797-923 Sentence denotes Mutants corresponding to Asn172 or Trp356 mutation were constructed by site-directed mutagenesis of the normal c21 cDNA clone.
T9 924-1067 Sentence denotes They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH.
T9 924-1067 Sentence denotes They failed to produce active enzyme toward either substrate upon transfection into COS-1 cells, demonstrating that these mutations caused CAH.
T10 1068-1214 Sentence denotes Aligning sequences with other P450s, Ile172 could be located in the membrane anchoring domain and Arg356 in the substrate-binding site of P450c21.
T10 1068-1214 Sentence denotes Aligning sequences with other P450s, Ile172 could be located in the membrane anchoring domain and Arg356 in the substrate-binding site of P450c21.
T11 1215-1350 Sentence denotes Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion events.
T11 1215-1350 Sentence denotes Both mutations are present in the CYP21A1P pseudogene, suggesting that they may be transferred from CYP21A1P by gene conversion events.