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A self-compatible mutant S allele conferring a dominant negative effect on the functional S allele in Ipomoea trifida

โœ Scribed by Kakeda, K. ;Tsukada, H. ;Kowyama, Y.


Publisher
Springer
Year
2000
Tongue
English
Weight
105 KB
Volume
13
Category
Article
ISSN
0934-0882

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A double mutant [N543H+2393del9] allele
โœ S. Castillo; G. Reyes; D. Tejedor; P. Mozas; Y. Suarez; M.A. Lasuncion; A. Cenar ๐Ÿ“‚ Article ๐Ÿ“… 2002 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 51 KB

Familial hypercholesterolemia is a genetic disorder caused by mutations in the LDL receptor gene. During a survey of mutations of LDL receptor gene in Spanish FH patients we found two mutations in the same allele: a missense N543H mutation in exon 11 and a 9bp inframe deletion (2393del9) located in