Matches in SemOpenAlex for { <https://semopenalex.org/work/W2093157746> ?p ?o ?g. }
Showing items 1 to 66 of
66
with 100 items per page.
- W2093157746 endingPage "232" @default.
- W2093157746 startingPage "232" @default.
- W2093157746 abstract "Objective: To screen the mutations for Chinese females who presented with 46, XY sex reversal in open reading frame (ORF) of SRY gene. Design: Using PCR analysis, a 609-bp PCR product was amplified. The PCR products were sequenced for mutations subsequently. Materials and Methods: Six Chinese patients came from our reproductive and genetic clinic, who presented with 46, XY sex reversal has been investigated. PCR, sequenceing were used. Results: Two of patients, mutations causing sex reversal were detected in the SRY ORF. A T is replaced by an A in codon 129 at position +387, resulting in the replacement of the polar amino acid tyrosine (TAT) by the stop code (TAA) in the region of HMG-box. An A is replaced by a G in codon 38 at position +113, resulting in the replacement of the polar amino acid glutamate (GAA) by the nonpolar amino acid glycine (GGA) in the 5’ region of SRY ORF. The point mutations have been confirmed with PCR-restrict enzyme method.As demonstrated by database analysis, homology searching, and review of the literature, these two mutations were not described earlier and thus seem to be unique, and demonstrated de novo. Conclusion: The mutations found here had not described earlier and brings the total number of SRY mutations to 46. These findings indicate that this amino acid substitution may be responsible for the sex reversal in this patient in Chinese, not only within the HMG-box but also non-HMG-box region." @default.
- W2093157746 created "2016-06-24" @default.
- W2093157746 creator A5000026105 @default.
- W2093157746 creator A5054888797 @default.
- W2093157746 creator A5089614577 @default.
- W2093157746 creator A5091669880 @default.
- W2093157746 date "2003-09-01" @default.
- W2093157746 modified "2023-10-18" @default.
- W2093157746 title "Analysis of SRY gene in the six sex reversal XY females identifies two novel mutations (Tyr129Stop and Glu38Gly) in China" @default.
- W2093157746 doi "https://doi.org/10.1016/s0015-0282(03)01538-3" @default.
- W2093157746 hasPublicationYear "2003" @default.
- W2093157746 type Work @default.
- W2093157746 sameAs 2093157746 @default.
- W2093157746 citedByCount "0" @default.
- W2093157746 crossrefType "journal-article" @default.
- W2093157746 hasAuthorship W2093157746A5000026105 @default.
- W2093157746 hasAuthorship W2093157746A5054888797 @default.
- W2093157746 hasAuthorship W2093157746A5089614577 @default.
- W2093157746 hasAuthorship W2093157746A5091669880 @default.
- W2093157746 hasBestOaLocation W20931577461 @default.
- W2093157746 hasConcept C104317684 @default.
- W2093157746 hasConcept C153911025 @default.
- W2093157746 hasConcept C167625842 @default.
- W2093157746 hasConcept C176944494 @default.
- W2093157746 hasConcept C20580545 @default.
- W2093157746 hasConcept C2780246931 @default.
- W2093157746 hasConcept C2780753755 @default.
- W2093157746 hasConcept C47289529 @default.
- W2093157746 hasConcept C501734568 @default.
- W2093157746 hasConcept C515207424 @default.
- W2093157746 hasConcept C54355233 @default.
- W2093157746 hasConcept C73456138 @default.
- W2093157746 hasConcept C86803240 @default.
- W2093157746 hasConceptScore W2093157746C104317684 @default.
- W2093157746 hasConceptScore W2093157746C153911025 @default.
- W2093157746 hasConceptScore W2093157746C167625842 @default.
- W2093157746 hasConceptScore W2093157746C176944494 @default.
- W2093157746 hasConceptScore W2093157746C20580545 @default.
- W2093157746 hasConceptScore W2093157746C2780246931 @default.
- W2093157746 hasConceptScore W2093157746C2780753755 @default.
- W2093157746 hasConceptScore W2093157746C47289529 @default.
- W2093157746 hasConceptScore W2093157746C501734568 @default.
- W2093157746 hasConceptScore W2093157746C515207424 @default.
- W2093157746 hasConceptScore W2093157746C54355233 @default.
- W2093157746 hasConceptScore W2093157746C73456138 @default.
- W2093157746 hasConceptScore W2093157746C86803240 @default.
- W2093157746 hasLocation W20931577461 @default.
- W2093157746 hasOpenAccess W2093157746 @default.
- W2093157746 hasPrimaryLocation W20931577461 @default.
- W2093157746 hasRelatedWork W1540619191 @default.
- W2093157746 hasRelatedWork W1661698928 @default.
- W2093157746 hasRelatedWork W1948731625 @default.
- W2093157746 hasRelatedWork W1965610572 @default.
- W2093157746 hasRelatedWork W1981549375 @default.
- W2093157746 hasRelatedWork W2026730855 @default.
- W2093157746 hasRelatedWork W2087309110 @default.
- W2093157746 hasRelatedWork W2132867663 @default.
- W2093157746 hasRelatedWork W2137638457 @default.
- W2093157746 hasRelatedWork W3152393000 @default.
- W2093157746 hasVolume "80" @default.
- W2093157746 isParatext "false" @default.
- W2093157746 isRetracted "false" @default.
- W2093157746 magId "2093157746" @default.
- W2093157746 workType "article" @default.