Matches in SemOpenAlex for { <https://semopenalex.org/work/W1561175433> ?p ?o ?g. }
Showing items 1 to 98 of
98
with 100 items per page.
- W1561175433 endingPage "145" @default.
- W1561175433 startingPage "139" @default.
- W1561175433 abstract "Three brothers with non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1, the gene associated with the Aarskog syndrome. Although the brothers have short stature and small feet, they lack distinct craniofacial, skeletal or genital findings suggestive of Aarskog syndrome. Their mother, the only obligate carrier available for testing, has the FGD1 mutation. The mutation, a C934T base change in exon 4, results in the proline at position 312 to be substituted with a leucine. This missense mutation is predicted to eliminate a beta-turn, creating an extra-long stretch of coiled sequence which may affect the orientations of an SH3 (Src homology 3) binding domain and the first structural conserved region. A new molecular defect associated with non-syndromal X-linked mental retardation affords an opportunity to seek specific diagnosis in males with previously unexplained developmental delays and this opens further predictive tests in families at risk." @default.
- W1561175433 created "2016-06-24" @default.
- W1561175433 creator A5027868773 @default.
- W1561175433 creator A5049792306 @default.
- W1561175433 creator A5052797753 @default.
- W1561175433 creator A5055580314 @default.
- W1561175433 creator A5062792375 @default.
- W1561175433 creator A5088358742 @default.
- W1561175433 date "2002-02-01" @default.
- W1561175433 modified "2023-10-18" @default.
- W1561175433 title "Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene" @default.
- W1561175433 cites W1559742681 @default.
- W1561175433 cites W1570500768 @default.
- W1561175433 cites W1968139369 @default.
- W1561175433 cites W1970571759 @default.
- W1561175433 cites W1970673977 @default.
- W1561175433 cites W1971427611 @default.
- W1561175433 cites W1973484211 @default.
- W1561175433 cites W1980033591 @default.
- W1561175433 cites W1989137136 @default.
- W1561175433 cites W2004583463 @default.
- W1561175433 cites W2012207475 @default.
- W1561175433 cites W2014640199 @default.
- W1561175433 cites W2032474463 @default.
- W1561175433 cites W2038113850 @default.
- W1561175433 cites W2041032323 @default.
- W1561175433 cites W2044757832 @default.
- W1561175433 cites W2061239440 @default.
- W1561175433 cites W2074605529 @default.
- W1561175433 cites W2077341537 @default.
- W1561175433 cites W2082758970 @default.
- W1561175433 cites W2090837352 @default.
- W1561175433 cites W2109863419 @default.
- W1561175433 cites W2127949109 @default.
- W1561175433 cites W2137719949 @default.
- W1561175433 cites W2916416762 @default.
- W1561175433 doi "https://doi.org/10.1034/j.1399-0004.2002.610209.x" @default.
- W1561175433 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11940089" @default.
- W1561175433 hasPublicationYear "2002" @default.
- W1561175433 type Work @default.
- W1561175433 sameAs 1561175433 @default.
- W1561175433 citedByCount "66" @default.
- W1561175433 countsByYear W15611754332012 @default.
- W1561175433 countsByYear W15611754332013 @default.
- W1561175433 countsByYear W15611754332014 @default.
- W1561175433 countsByYear W15611754332015 @default.
- W1561175433 countsByYear W15611754332016 @default.
- W1561175433 countsByYear W15611754332017 @default.
- W1561175433 countsByYear W15611754332018 @default.
- W1561175433 countsByYear W15611754332019 @default.
- W1561175433 countsByYear W15611754332020 @default.
- W1561175433 countsByYear W15611754332021 @default.
- W1561175433 countsByYear W15611754332022 @default.
- W1561175433 crossrefType "journal-article" @default.
- W1561175433 hasAuthorship W1561175433A5027868773 @default.
- W1561175433 hasAuthorship W1561175433A5049792306 @default.
- W1561175433 hasAuthorship W1561175433A5052797753 @default.
- W1561175433 hasAuthorship W1561175433A5055580314 @default.
- W1561175433 hasAuthorship W1561175433A5062792375 @default.
- W1561175433 hasAuthorship W1561175433A5088358742 @default.
- W1561175433 hasConcept C104317684 @default.
- W1561175433 hasConcept C2776149932 @default.
- W1561175433 hasConcept C2781245598 @default.
- W1561175433 hasConcept C36823959 @default.
- W1561175433 hasConcept C501734568 @default.
- W1561175433 hasConcept C54355233 @default.
- W1561175433 hasConcept C75563809 @default.
- W1561175433 hasConcept C86803240 @default.
- W1561175433 hasConceptScore W1561175433C104317684 @default.
- W1561175433 hasConceptScore W1561175433C2776149932 @default.
- W1561175433 hasConceptScore W1561175433C2781245598 @default.
- W1561175433 hasConceptScore W1561175433C36823959 @default.
- W1561175433 hasConceptScore W1561175433C501734568 @default.
- W1561175433 hasConceptScore W1561175433C54355233 @default.
- W1561175433 hasConceptScore W1561175433C75563809 @default.
- W1561175433 hasConceptScore W1561175433C86803240 @default.
- W1561175433 hasIssue "2" @default.
- W1561175433 hasLocation W15611754331 @default.
- W1561175433 hasLocation W15611754332 @default.
- W1561175433 hasOpenAccess W1561175433 @default.
- W1561175433 hasPrimaryLocation W15611754331 @default.
- W1561175433 hasRelatedWork W1964168685 @default.
- W1561175433 hasRelatedWork W2001372610 @default.
- W1561175433 hasRelatedWork W2069150591 @default.
- W1561175433 hasRelatedWork W2346234223 @default.
- W1561175433 hasRelatedWork W2388007221 @default.
- W1561175433 hasRelatedWork W2712099391 @default.
- W1561175433 hasRelatedWork W2946717625 @default.
- W1561175433 hasRelatedWork W3112531196 @default.
- W1561175433 hasRelatedWork W3209405271 @default.
- W1561175433 hasRelatedWork W4232163425 @default.
- W1561175433 hasVolume "61" @default.
- W1561175433 isParatext "false" @default.
- W1561175433 isRetracted "false" @default.
- W1561175433 magId "1561175433" @default.
- W1561175433 workType "article" @default.