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Id Subject Object Predicate Lexical cue
T1 0-63 Sentence denotes Molecular basis of tyrosinase-negative oculocutaneous albinism.
T1 0-63 Sentence denotes Molecular basis of tyrosinase-negative oculocutaneous albinism.
T2 64-168 Sentence denotes A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
T2 64-168 Sentence denotes A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59.
T3 169-342 Sentence denotes Tyrosinase-negative oculocutaneous albinism (OCA) is one of classical inborn errors of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin.
T3 169-342 Sentence denotes Tyrosinase-negative oculocutaneous albinism (OCA) is one of classical inborn errors of metabolism, characterized by a complete lack of melanin pigments in the eyes and skin.
T4 343-414 Sentence denotes We have isolated and characterized the tyrosinase gene of one child (F.
T4 343-414 Sentence denotes We have isolated and characterized the tyrosinase gene of one child (F.
T5 415-457 Sentence denotes S.) affected with tyrosinase-negative OCA.
T5 415-457 Sentence denotes S.) affected with tyrosinase-negative OCA.
T6 458-633 Sentence denotes Sequence analysis reveals a single-base mutation in the exon 1 (a G to A transition at nucleotide residue 312), causing the Arg (CGG) to Gln (CAG) substitution at position 59.
T6 458-633 Sentence denotes Sequence analysis reveals a single-base mutation in the exon 1 (a G to A transition at nucleotide residue 312), causing the Arg (CGG) to Gln (CAG) substitution at position 59.
T7 634-827 Sentence denotes This base change eliminates one MspI site and creates a new BstNI site in the patient's exon 1, which is invaluable for screening other OCA patients and heterozygote carriers for this mutation.
T7 634-827 Sentence denotes This base change eliminates one MspI site and creates a new BstNI site in the patient's exon 1, which is invaluable for screening other OCA patients and heterozygote carriers for this mutation.
T8 828-875 Sentence denotes We are thus able to confirm that the patient F.
T8 828-875 Sentence denotes We are thus able to confirm that the patient F.
T9 876-913 Sentence denotes S. is homozygous for this OCA allele.
T9 876-913 Sentence denotes S. is homozygous for this OCA allele.
T10 914-950 Sentence denotes The family members of the patient F.
T10 914-950 Sentence denotes The family members of the patient F.
T11 951-1023 Sentence denotes S. are phenotypically normal, but are shown to be heterozygote carriers.
T11 951-1023 Sentence denotes S. are phenotypically normal, but are shown to be heterozygote carriers.
T12 1024-1232 Sentence denotes Transfection of the mutant gene fails to give rise to detectable tyrosinase activity in transient expression assays, suggesting that the mutation affects the stability or the catalytic activity of the enzyme.
T12 1024-1232 Sentence denotes Transfection of the mutant gene fails to give rise to detectable tyrosinase activity in transient expression assays, suggesting that the mutation affects the stability or the catalytic activity of the enzyme.
T13 1233-1297 Sentence denotes We therefore propose that the albino phenotype of the patient F.
T13 1233-1297 Sentence denotes We therefore propose that the albino phenotype of the patient F.
T14 1298-1414 Sentence denotes S. is a consequence of the Arg to Gln substitution at position 59 caused by a point mutation in the tyrosinase gene.
T14 1298-1414 Sentence denotes S. is a consequence of the Arg to Gln substitution at position 59 caused by a point mutation in the tyrosinase gene.