论文信息 - High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation. - 字舞流文

High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann-Happle syndrome with a novel H76Y missense mutation.

M. Ishii | T. Kasama | K. Fukai | Akitoshi Tsuruhara | T. Yokoi | A. Umekoji | Mika Saito

[1] R. Sutphen,et al. Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome) , 2002, Genetics in Medicine.

[2] U. Seedorf,et al. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. , 2002, The Journal of investigative dermatology.

[3] C. Has,et al. The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism. , 2000, Human molecular genetics.

[4] J. Derry,et al. Mutations in a Δ8-Δ7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata , 1999, Nature Genetics.

[5] A. Moser,et al. Mutations in the gene encoding 3β-hydroxysteroid-Δ 8,Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome , 1999, Nature Genetics.

[6] G. Bonn,et al. Histidine77, glutamic acid81, glutamic acid123, threonine126, asparagine194, and tryptophan197 of the human emopamil binding protein are required for in vivo sterol delta 8-delta 7 isomerization. , 1999, Biochemistry.