LitCoin-sentences  

PubMed:15064320 JSONTXT 29 Projects

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Id Subject Object Predicate Lexical cue
T1 0-114 Sentence denotes Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
T2 115-341 Sentence denotes The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences.
T3 342-541 Sentence denotes A patient of Chinese origin with ambiguous genitalia at 14 months, a 46,XY karyotype, and normal T secretion under human chorionic gonadotropin (hCG) stimulation underwent a gonadectomy at 20 months.
T4 542-641 Sentence denotes Exons 1-8 of the AR gene and exons 1-5 of the SRD5A2 gene were sequenced from peripheral blood DNA.
T5 642-679 Sentence denotes AR gene coding sequences were normal.
T6 680-780 Sentence denotes SRD5A2 gene analysis revealed 2 consecutive mutations in exon 4, each located in a different allele:
T7 781-1013 Sentence denotes 1) a T nucleotide deletion, which predicts a frameshift mutation from codon 219, and 2) a missense mutation at codon 227, where the substitution of guanine (CGA) by adenine (CAA) predicts a glutamine replacement of arginine (R227Q).
T8 1014-1086 Sentence denotes Testes located in the inguinal canal showed a normal morphology for age.
T9 1087-1180 Sentence denotes The patient was a compound heterozygote for SRD5A2 mutations, carrying 2 mutations in exon 4.
T10 1181-1331 Sentence denotes The patient showed an R227Q mutation that has been described in an Asian population and MPH patients, along with a novel frameshift mutation, Tdel219.
T11 1332-1483 Sentence denotes Testis morphology showed that, during early infancy, the 5-alpha-reductase enzyme deficiency may not have affected interstitial or tubular development.