FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2152977690> ?p ?o ?g. }

• W2152977690 endingPage "2693" @default.
• W2152977690 startingPage "2688" @default.
• W2152977690 abstract "MEN1 is an autosomal dominant disorder characterized by parathyroid, pituitary, and pancreatic tumors. The MEN1 gene is located on chromosome 11q13 and encodes a 610-amino acid protein. MEN1 mutations are of diverse types and are scattered throughout the coding region, such that almost every MEN1 family will have its individual mutation. To further characterize such mutations we ascertained 34 unrelated MEN1 probands and undertook DNA sequence analysis. This identified 17 different mutations in 24 probands (2 nonsense, 2 missense, 2 in-frame deletions, 5 frameshift deletions, 1 frameshift deletional-insertion, 3 frameshift insertions, 1 donor splice site mutation, and a g→a transition that resulted in a novel acceptor splice site in intron 4). The intron 4 mutation was found in 7 unrelated families, and the tumors in these families varied considerably, indicating a lack of genotype-phenotype correlation. However, this intron 4 mutation is the most frequently occurring germline MEN1 mutation (∼10% of all mutations), and together with 5 others at codons 83–84, 118–119, 209–211, 418, and 516, accounts for 36.6% of all mutations, a finding that indicates an approach for identifying the widely diverse MEN1 mutations." @default.
• W2152977690 created "2016-06-24" @default.
• W2152977690 creator A5022998070 @default.
• W2152977690 creator A5027094899 @default.
• W2152977690 creator A5027732352 @default.
• W2152977690 creator A5031268979 @default.
• W2152977690 creator A5035332968 @default.
• W2152977690 creator A5058853450 @default.
• W2152977690 creator A5068308707 @default.
• W2152977690 creator A5070105727 @default.
• W2152977690 creator A5070954003 @default.
• W2152977690 creator A5073904629 @default.
• W2152977690 creator A5075231985 @default.
• W2152977690 creator A5081012904 @default.
• W2152977690 creator A5082744675 @default.
• W2152977690 creator A5084653587 @default.
• W2152977690 creator A5085558998 @default.
• W2152977690 date "2002-06-01" @default.
• W2152977690 modified "2023-10-16" @default.
• W2152977690 title "Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1" @default.
• W2152977690 cites W1481193274 @default.
• W2152977690 cites W1529006032 @default.
• W2152977690 cites W1704269168 @default.
• W2152977690 cites W1897600324 @default.
• W2152977690 cites W1965051773 @default.
• W2152977690 cites W1965438978 @default.
• W2152977690 cites W1968434592 @default.
• W2152977690 cites W1971960595 @default.
• W2152977690 cites W1976870937 @default.
• W2152977690 cites W1980209112 @default.
• W2152977690 cites W1982086385 @default.
• W2152977690 cites W1989146112 @default.
• W2152977690 cites W1994927432 @default.
• W2152977690 cites W1996178263 @default.
• W2152977690 cites W1996360654 @default.
• W2152977690 cites W1998877669 @default.
• W2152977690 cites W2004559232 @default.
• W2152977690 cites W2019769423 @default.
• W2152977690 cites W2023367466 @default.
• W2152977690 cites W2026148841 @default.
• W2152977690 cites W2028137239 @default.
• W2152977690 cites W2036681136 @default.
• W2152977690 cites W2037473917 @default.
• W2152977690 cites W2044067295 @default.
• W2152977690 cites W2045005073 @default.
• W2152977690 cites W2045189686 @default.
• W2152977690 cites W2045570584 @default.
• W2152977690 cites W2052529859 @default.
• W2152977690 cites W2052611245 @default.
• W2152977690 cites W2063137811 @default.
• W2152977690 cites W2065274501 @default.
• W2152977690 cites W2065854414 @default.
• W2152977690 cites W2073504234 @default.
• W2152977690 cites W2074883939 @default.
• W2152977690 cites W2075975440 @default.
• W2152977690 cites W2076830118 @default.
• W2152977690 cites W2077215579 @default.
• W2152977690 cites W2079896594 @default.
• W2152977690 cites W2079950051 @default.
• W2152977690 cites W2080367628 @default.
• W2152977690 cites W2083548413 @default.
• W2152977690 cites W2090343636 @default.
• W2152977690 cites W2091430552 @default.
• W2152977690 cites W2101059658 @default.
• W2152977690 cites W2103381518 @default.
• W2152977690 cites W2105328553 @default.
• W2152977690 cites W2114499003 @default.
• W2152977690 cites W2116275464 @default.
• W2152977690 cites W2116702160 @default.
• W2152977690 cites W2119481249 @default.
• W2152977690 cites W2121841088 @default.
• W2152977690 cites W2124570033 @default.
• W2152977690 cites W2137447477 @default.
• W2152977690 cites W2143160369 @default.
• W2152977690 cites W2146889282 @default.
• W2152977690 cites W2151984626 @default.
• W2152977690 cites W2157212789 @default.
• W2152977690 cites W2162942974 @default.
• W2152977690 cites W2165633518 @default.
• W2152977690 cites W2167278658 @default.
• W2152977690 cites W3145114534 @default.
• W2152977690 cites W3211184148 @default.
• W2152977690 doi "https://doi.org/10.1210/jc.87.6.2688" @default.
• W2152977690 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/12050235" @default.
• W2152977690 hasPublicationYear "2002" @default.
• W2152977690 type Work @default.
• W2152977690 sameAs 2152977690 @default.
• W2152977690 citedByCount "28" @default.
• W2152977690 countsByYear W21529776902012 @default.
• W2152977690 countsByYear W21529776902013 @default.
• W2152977690 countsByYear W21529776902015 @default.
• W2152977690 countsByYear W21529776902017 @default.
• W2152977690 countsByYear W21529776902018 @default.
• W2152977690 countsByYear W21529776902020 @default.
• W2152977690 countsByYear W21529776902022 @default.
• W2152977690 crossrefType "journal-article" @default.
• W2152977690 hasAuthorship W2152977690A5022998070 @default.
• W2152977690 hasAuthorship W2152977690A5027094899 @default.

• next