FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2107071805> ?p ?o ?g. }

• W2107071805 endingPage "203" @default.
• W2107071805 startingPage "197" @default.
• W2107071805 abstract "Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. A number of mutations have been repeatedly reported for this gene, notably the 2588G>C mutation which is frequent in both patients and controls. Here we ascertained the frequency of the 2588G>C mutation in a total of 2343 unrelated random control individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US. We found an overall carrier frequency of 1 out of 54 in Europe, compared with 1 out of 121 in the US, confirming that the 2588G>C ABCA4 mutation is one of the most frequent autosomal recessive mutations in the European population. Carrier frequencies show an increasing gradient in Europe from South-West to North-East. The lowest carrier frequency, 0 out of 199 (0%), was found in Portugal; the highest, 11 out of 197 (5.5%), was found in Sweden. Haplotype analysis in 16 families segregating the 2588G>C mutation showed four intragenic polymorphisms invariably present in all 16 disease chromosomes and sharing of the same allele for several markers flanking the ABCA4 locus in most of the disease chromosomes. These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago." @default.
• W2107071805 created "2016-06-24" @default.
• W2107071805 creator A5000137807 @default.
• W2107071805 creator A5000505349 @default.
• W2107071805 creator A5000989511 @default.
• W2107071805 creator A5005563599 @default.
• W2107071805 creator A5008057429 @default.
• W2107071805 creator A5017458885 @default.
• W2107071805 creator A5021548595 @default.
• W2107071805 creator A5022291095 @default.
• W2107071805 creator A5023784713 @default.
• W2107071805 creator A5028621662 @default.
• W2107071805 creator A5037396767 @default.
• W2107071805 creator A5039455897 @default.
• W2107071805 creator A5039814407 @default.
• W2107071805 creator A5049773865 @default.
• W2107071805 creator A5058313293 @default.
• W2107071805 creator A5059517063 @default.
• W2107071805 creator A5061680067 @default.
• W2107071805 creator A5064527891 @default.
• W2107071805 creator A5066763304 @default.
• W2107071805 creator A5068947363 @default.
• W2107071805 creator A5073100839 @default.
• W2107071805 creator A5073198073 @default.
• W2107071805 creator A5078210977 @default.
• W2107071805 creator A5078964808 @default.
• W2107071805 creator A5080579345 @default.
• W2107071805 creator A5080937461 @default.
• W2107071805 creator A5089786582 @default.
• W2107071805 creator A5035490118 @default.
• W2107071805 date "2002-03-01" @default.
• W2107071805 modified "2023-10-17" @default.
• W2107071805 title "The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe" @default.
• W2107071805 cites W151092247 @default.
• W2107071805 cites W1526637642 @default.
• W2107071805 cites W1647483410 @default.
• W2107071805 cites W1935916792 @default.
• W2107071805 cites W1964753793 @default.
• W2107071805 cites W1969929916 @default.
• W2107071805 cites W1991544676 @default.
• W2107071805 cites W1993606042 @default.
• W2107071805 cites W1994172606 @default.
• W2107071805 cites W1997616950 @default.
• W2107071805 cites W2004070112 @default.
• W2107071805 cites W2010421085 @default.
• W2107071805 cites W2010542360 @default.
• W2107071805 cites W2022177992 @default.
• W2107071805 cites W2022817398 @default.
• W2107071805 cites W2026013566 @default.
• W2107071805 cites W2027590773 @default.
• W2107071805 cites W2047746556 @default.
• W2107071805 cites W2064063117 @default.
• W2107071805 cites W2077602259 @default.
• W2107071805 cites W2082541003 @default.
• W2107071805 cites W2092061050 @default.
• W2107071805 cites W2125422830 @default.
• W2107071805 cites W2129572698 @default.
• W2107071805 cites W2133598188 @default.
• W2107071805 cites W2144184852 @default.
• W2107071805 cites W2165226694 @default.
• W2107071805 doi "https://doi.org/10.1038/sj.ejhg.5200784" @default.
• W2107071805 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11973624" @default.
• W2107071805 hasPublicationYear "2002" @default.
• W2107071805 type Work @default.
• W2107071805 sameAs 2107071805 @default.
• W2107071805 citedByCount "44" @default.
• W2107071805 countsByYear W21070718052012 @default.
• W2107071805 countsByYear W21070718052013 @default.
• W2107071805 countsByYear W21070718052014 @default.
• W2107071805 countsByYear W21070718052015 @default.
• W2107071805 countsByYear W21070718052017 @default.
• W2107071805 countsByYear W21070718052018 @default.
• W2107071805 countsByYear W21070718052019 @default.
• W2107071805 countsByYear W21070718052020 @default.
• W2107071805 countsByYear W21070718052021 @default.
• W2107071805 countsByYear W21070718052022 @default.
• W2107071805 crossrefType "journal-article" @default.
• W2107071805 hasAuthorship W2107071805A5000137807 @default.
• W2107071805 hasAuthorship W2107071805A5000505349 @default.
• W2107071805 hasAuthorship W2107071805A5000989511 @default.
• W2107071805 hasAuthorship W2107071805A5005563599 @default.
• W2107071805 hasAuthorship W2107071805A5008057429 @default.
• W2107071805 hasAuthorship W2107071805A5017458885 @default.
• W2107071805 hasAuthorship W2107071805A5021548595 @default.
• W2107071805 hasAuthorship W2107071805A5022291095 @default.
• W2107071805 hasAuthorship W2107071805A5023784713 @default.
• W2107071805 hasAuthorship W2107071805A5028621662 @default.
• W2107071805 hasAuthorship W2107071805A5035490118 @default.
• W2107071805 hasAuthorship W2107071805A5037396767 @default.
• W2107071805 hasAuthorship W2107071805A5039455897 @default.
• W2107071805 hasAuthorship W2107071805A5039814407 @default.
• W2107071805 hasAuthorship W2107071805A5049773865 @default.
• W2107071805 hasAuthorship W2107071805A5058313293 @default.
• W2107071805 hasAuthorship W2107071805A5059517063 @default.
• W2107071805 hasAuthorship W2107071805A5061680067 @default.
• W2107071805 hasAuthorship W2107071805A5064527891 @default.
• W2107071805 hasAuthorship W2107071805A5066763304 @default.
• W2107071805 hasAuthorship W2107071805A5068947363 @default.

• next