Matches in SemOpenAlex for { <https://semopenalex.org/work/W1692009091> ?p ?o ?g. }
- W1692009091 endingPage "822" @default.
- W1692009091 startingPage "816" @default.
- W1692009091 abstract "Chediak–Higashi syndrome (CHS) is a rare autosomal recessive disorder of human, mouse (beige) and other mammalian species. The same genetic defect was found to result in the disease in all species identified, permitting a positional cloning approach using the mouse model beige to identify the responsible gene. The CHS gene was cloned and mutations identified in affected species. This review discusses the clinical features of CHS contrasting features seen in similar syndromes. The possible functions of the protein encoded by the CHS/beige gene are discussed, along with the alterations in cellular physiology seen in mutant cells." @default.
- W1692009091 created "2016-06-24" @default.
- W1692009091 creator A5024345109 @default.
- W1692009091 creator A5035880365 @default.
- W1692009091 creator A5039981662 @default.
- W1692009091 creator A5069634632 @default.
- W1692009091 date "2000-09-01" @default.
- W1692009091 modified "2023-09-26" @default.
- W1692009091 title "Analysis of the Lysosomal Storage Disease Chediak-Higashi Syndrome" @default.
- W1692009091 cites W1489286522 @default.
- W1692009091 cites W1493827763 @default.
- W1692009091 cites W150829751 @default.
- W1692009091 cites W1540441814 @default.
- W1692009091 cites W1545599844 @default.
- W1692009091 cites W1570667313 @default.
- W1692009091 cites W1595948267 @default.
- W1692009091 cites W168978644 @default.
- W1692009091 cites W1815010795 @default.
- W1692009091 cites W1852276545 @default.
- W1692009091 cites W1966667335 @default.
- W1692009091 cites W1969857515 @default.
- W1692009091 cites W1973046803 @default.
- W1692009091 cites W1978982003 @default.
- W1692009091 cites W1981974890 @default.
- W1692009091 cites W1982865150 @default.
- W1692009091 cites W1984111619 @default.
- W1692009091 cites W1984119463 @default.
- W1692009091 cites W1987945386 @default.
- W1692009091 cites W1989942390 @default.
- W1692009091 cites W1992000711 @default.
- W1692009091 cites W1993107763 @default.
- W1692009091 cites W2006906257 @default.
- W1692009091 cites W2008620965 @default.
- W1692009091 cites W2009076355 @default.
- W1692009091 cites W2009713979 @default.
- W1692009091 cites W2009758559 @default.
- W1692009091 cites W2012288527 @default.
- W1692009091 cites W2013944173 @default.
- W1692009091 cites W2020825132 @default.
- W1692009091 cites W2025570895 @default.
- W1692009091 cites W2026372765 @default.
- W1692009091 cites W2026590190 @default.
- W1692009091 cites W2029003444 @default.
- W1692009091 cites W2029360644 @default.
- W1692009091 cites W2046923391 @default.
- W1692009091 cites W2049250932 @default.
- W1692009091 cites W2052670860 @default.
- W1692009091 cites W2056865617 @default.
- W1692009091 cites W2057777449 @default.
- W1692009091 cites W2060035117 @default.
- W1692009091 cites W2065596115 @default.
- W1692009091 cites W2070359951 @default.
- W1692009091 cites W2070760584 @default.
- W1692009091 cites W2077870957 @default.
- W1692009091 cites W2079648602 @default.
- W1692009091 cites W2082180699 @default.
- W1692009091 cites W2090602010 @default.
- W1692009091 cites W2094668768 @default.
- W1692009091 cites W2095439296 @default.
- W1692009091 cites W2105667261 @default.
- W1692009091 cites W2107482604 @default.
- W1692009091 cites W2113167811 @default.
- W1692009091 cites W2114695944 @default.
- W1692009091 cites W2120499824 @default.
- W1692009091 cites W2126972494 @default.
- W1692009091 cites W2131550182 @default.
- W1692009091 cites W2133166743 @default.
- W1692009091 cites W2135838345 @default.
- W1692009091 cites W2135935249 @default.
- W1692009091 cites W2140577722 @default.
- W1692009091 cites W2143859241 @default.
- W1692009091 cites W2146983913 @default.
- W1692009091 cites W2148137540 @default.
- W1692009091 cites W2151026886 @default.
- W1692009091 cites W2156638024 @default.
- W1692009091 cites W2164922894 @default.
- W1692009091 cites W2170844178 @default.
- W1692009091 cites W2171190856 @default.
- W1692009091 cites W2231136811 @default.
- W1692009091 cites W2312842851 @default.
- W1692009091 cites W2315608135 @default.
- W1692009091 cites W2402348859 @default.
- W1692009091 cites W2407151370 @default.
- W1692009091 cites W2417467491 @default.
- W1692009091 cites W2426269696 @default.
- W1692009091 cites W28158108 @default.
- W1692009091 cites W2988207268 @default.
- W1692009091 cites W333617164 @default.
- W1692009091 cites W4249155183 @default.
- W1692009091 doi "https://doi.org/10.1034/j.1600-0854.2000.011102.x" @default.
- W1692009091 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/11208072" @default.
- W1692009091 hasPublicationYear "2000" @default.
- W1692009091 type Work @default.
- W1692009091 sameAs 1692009091 @default.
- W1692009091 citedByCount "112" @default.
- W1692009091 countsByYear W16920090912012 @default.
- W1692009091 countsByYear W16920090912013 @default.
- W1692009091 countsByYear W16920090912014 @default.