Datasets:

Brizape

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multiCorp_tokenized_split_LabelNorm_0404_dev

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[ "CONTEXT:", "17alpha-Hydroxylase", "deficiency", "is", "a", "rare", "form", "of", "congenital", "adrenal", "hyperplasia", "caused", "by", "CYP17", "gene", "mutations.", "OBJECTIVE:", "Five", "Chinese", "patients", "with", "17alpha-hydroxylase", "deficiency", "were", "genotyped.", "PATIENTS:", "The", "five", "patients", "derived", "from", "four", "families", "living", "in", "Shandong", "Province,", "China.", "The", "diagnosis", "of", "17alpha-hydroxylase", "deficiency", "was", "initially", "established", "through", "HPLC", "serum", "adrenal", "profiles", "in", "Qilu", "Hospital,", "China,", "from", "1983-1993.", "RESULTS:", "Three", "CYP17", "gene", "mutations", "were", "identified", "from", "these", "patients.", "Among", "them,", "V311fs", " ", "and", "Y329fs", " ", "are", "two", "novel", "frame-shifting", "mutations.", "V311fs", " ", "is", "an", "8-bp", "nucleotide", "(TTAAATGG)", "deletion", "in", "exon", "5.", "Y329fs", " ", "is", "a", "deletion-insertion", "combined", "mutation", "(TAC-->AA)", "at", "codon", "329", " ", "in", "exon", "6.", "Two", "homozygotes", "for", "Y329fs", " ", "and", "one", "compound", "heterozygote", "for", "Y329fs", " ", "and", "V311fs", " ", "were", "identified", "from", "three", "different", "families.", "Two", "homozygous", "sisters", "for", "the", "D487_S488_F489", "deletion", "were", "identified.", "CONCLUSION:", "The", "results", "confirmed", "the", "diagnostic", "value", "of", "the", "HPLC", "serum", "adrenal", "profile", "for", "17alpha-hydroxylase", "deficiency.", "The", "D487_S488_F489", "deletion", "had", "been", "identified", "in", "two", "previously", "genotyped", "Chinese", "families.", "In", "our", "present", "study,", "a", "third", "Chinese", "family", "with", "this", "mutation", "was", "identified,", "suggesting", "that", "this", "mutation", "is", "a", "prevalent", "CYP17", "mutation", "in", "the", "Chinese", "population.", "The", "identification", "of", "Y329fs", " ", "mutation", "in", "addition", "to", "three", "previously", "identified", "mutations", "at", "codon", "329", "suggests", "that", "codon", "329", "is", "an", "unstable", "point", "of", "the", "CYP17", "gene.", "The", "mutations", "identified", "from", "our", "five", "patients", "appear", "to", "be", "random,", "but", "the", "recurrence", "of", "the", "Y329fs", " ", "mutation", "may", "be", "attributed", "to", "a", "founder", "effect.", "Our", "studies", "suggest", "that", "17alpha-hydroxylase", "deficiency", "may", "not", "be", "rare", "in", "the", "Chinese", "population." ]

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