LitCoin-sentences  

PubMed:15770495 JSONTXT 26 Projects

Annnotations TAB TSV DIC JSON TextAE Lectin_function IAV-Glycan

Id Subject Object Predicate Lexical cue
T1 0-115 Sentence denotes New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
T2 116-293 Sentence denotes Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity.
T3 294-567 Sentence denotes In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5alpha-reductase type 2 deficiency from 18 Brazilian families.
T4 568-936 Sentence denotes Eleven subjects presented SRD5A2 homozygous single-base mutations (two first cousins and four unrelated patients with G183S, two with R246W, one with del642T, one with G196S, and one with 217_218insC plus the A49T variant in heterozygosis), whereas four were compound heterozygotes (one with Q126R/IVS3+1G>A, one with Q126R/del418T, and two brothers with Q126R/G158R).
T5 937-1012 Sentence denotes Three patients were heterozygous for A207D, G196S, and R266W substitutions.
T6 1013-1145 Sentence denotes The V89L polymorphism was found in heterozygosis in one of them (with A207D) and in one case with an otherwise normal gene sequence.
T7 1146-1256 Sentence denotes The A49T variant was also detected in heterozygosis in the second case without other sequencing abnormalities.
T8 1257-1504 Sentence denotes Four patients harbor yet non-described SRD5A2 gene mutations: a single nucleotide deletion (del642T), a G158R amino acid substitution, a splice junction mutation (IVS3+1G>A), and the insertion of a cytosine (217_218insC) occurring at a CCCC motif.
T9 1505-1605 Sentence denotes This is the first report of a single-nucleotide insertion in the coding sequence of the SRD5A2 gene.
T10 1606-1819 Sentence denotes In addition to these new mutations, this investigation reveals the prevalence of G183S substitution among a subset of African-Brazilian patients and presents evidences of the recurrence of already known mutations.