FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2109234462> ?p ?o ?g. }

• W2109234462 endingPage "3641" @default.
• W2109234462 startingPage "3636" @default.
• W2109234462 abstract "The human genome contains many repeated DNA sequences that vary in complexity of repeating unit from a single nucleotide to a whole gene. The repeat sequences can be widely dispersed or in simple tandem arrays. Arrays of up to 5 or 6 nt are known as simple tandem repeats, and these are widely dispersed and highly polymorphic. Members of one group of the simple tandem repeats, the trinucleotide repeats, can undergo an increase in copy number by a process of dynamic mutation. Dynamic mutations of the CCG trinucleotide give rise to one group of fragile sites on human chromosomes, the rare folate-sensitive group. One member of this group, the fragile X (FRAXA) is responsible for the most common familial form of mental retardation. Another member of the group FRAXE is responsible for a rarer mild form of mental retardation. Similar mutations of AGC repeats give rise to a number of neurological disorders. The expanded repeats are unstable between generations and somatically. The intergenerational instability gives rise to unusual patterns of inheritance--particularly anticipation, the increasing severity and/or earlier age of onset of the disorder in successive generations. Dynamic mutations have been found only in the human species, and possible reasons for this are considered. The mechanism of dynamic mutation is discussed, and a number of observations of simple tandem repeat mutation that could assist in understanding this phenomenon are commented on." @default.
• W2109234462 created "2016-06-24" @default.
• W2109234462 creator A5007390698 @default.
• W2109234462 creator A5055353118 @default.
• W2109234462 date "1995-04-25" @default.
• W2109234462 modified "2023-10-18" @default.
• W2109234462 title "Simple tandem DNA repeats and human genetic disease." @default.
• W2109234462 cites W1504831361 @default.
• W2109234462 cites W1505199084 @default.
• W2109234462 cites W1537896138 @default.
• W2109234462 cites W1587638671 @default.
• W2109234462 cites W1832974928 @default.
• W2109234462 cites W1868263348 @default.
• W2109234462 cites W1941644192 @default.
• W2109234462 cites W1970972148 @default.
• W2109234462 cites W1972711321 @default.
• W2109234462 cites W1973824340 @default.
• W2109234462 cites W1975576726 @default.
• W2109234462 cites W1976131446 @default.
• W2109234462 cites W1977283045 @default.
• W2109234462 cites W1977284533 @default.
• W2109234462 cites W1978871519 @default.
• W2109234462 cites W1980721237 @default.
• W2109234462 cites W1980933651 @default.
• W2109234462 cites W1981112371 @default.
• W2109234462 cites W1982641921 @default.
• W2109234462 cites W1984865535 @default.
• W2109234462 cites W1985364431 @default.
• W2109234462 cites W1986579608 @default.
• W2109234462 cites W1986594553 @default.
• W2109234462 cites W1986937402 @default.
• W2109234462 cites W1989187665 @default.
• W2109234462 cites W1989429141 @default.
• W2109234462 cites W1995819860 @default.
• W2109234462 cites W2000754500 @default.
• W2109234462 cites W2001087751 @default.
• W2109234462 cites W2001982852 @default.
• W2109234462 cites W2002361960 @default.
• W2109234462 cites W2002780348 @default.
• W2109234462 cites W2005339565 @default.
• W2109234462 cites W2008706402 @default.
• W2109234462 cites W2008801609 @default.
• W2109234462 cites W2011719683 @default.
• W2109234462 cites W2012158167 @default.
• W2109234462 cites W2012481532 @default.
• W2109234462 cites W2014379523 @default.
• W2109234462 cites W2021244375 @default.
• W2109234462 cites W2022174739 @default.
• W2109234462 cites W2022257681 @default.
• W2109234462 cites W2030515818 @default.
• W2109234462 cites W2032255653 @default.
• W2109234462 cites W2035070579 @default.
• W2109234462 cites W2036338927 @default.
• W2109234462 cites W2036872469 @default.
• W2109234462 cites W2040340633 @default.
• W2109234462 cites W2044643325 @default.
• W2109234462 cites W2046530033 @default.
• W2109234462 cites W2049841107 @default.
• W2109234462 cites W2051013729 @default.
• W2109234462 cites W2053827853 @default.
• W2109234462 cites W2054962162 @default.
• W2109234462 cites W2055092110 @default.
• W2109234462 cites W2072952476 @default.
• W2109234462 cites W2073012734 @default.
• W2109234462 cites W2075038599 @default.
• W2109234462 cites W2080952568 @default.
• W2109234462 cites W2087730230 @default.
• W2109234462 cites W2094415025 @default.
• W2109234462 cites W2094895064 @default.
• W2109234462 cites W2097927344 @default.
• W2109234462 cites W2103964575 @default.
• W2109234462 cites W2109436341 @default.
• W2109234462 cites W2113333419 @default.
• W2109234462 cites W2120325083 @default.
• W2109234462 cites W2121082106 @default.
• W2109234462 cites W2135199520 @default.
• W2109234462 cites W2137374371 @default.
• W2109234462 cites W2139964075 @default.
• W2109234462 cites W2140157140 @default.
• W2109234462 cites W2143433556 @default.
• W2109234462 cites W2144995800 @default.
• W2109234462 cites W2149919973 @default.
• W2109234462 cites W2160382198 @default.
• W2109234462 cites W2167119720 @default.
• W2109234462 cites W2169366310 @default.
• W2109234462 cites W2255469197 @default.
• W2109234462 cites W2326122757 @default.
• W2109234462 doi "https://doi.org/10.1073/pnas.92.9.3636" @default.
• W2109234462 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/42017" @default.
• W2109234462 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/7731957" @default.
• W2109234462 hasPublicationYear "1995" @default.
• W2109234462 type Work @default.
• W2109234462 sameAs 2109234462 @default.
• W2109234462 citedByCount "304" @default.
• W2109234462 countsByYear W21092344622012 @default.
• W2109234462 countsByYear W21092344622013 @default.
• W2109234462 countsByYear W21092344622014 @default.
• W2109234462 countsByYear W21092344622015 @default.

• next