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Mutations in the LDL receptor gene in four Chinese homozygous familial hypercholesterolemia phenotype patients

✍ Scribed by L. Wang; J. Lin; S. Liu; S. Cao; J. Liu; Q. Yong; Y. Yang; B. Wu; X. Pan; L. Du; C. Wu; Y. Qin; B. Chen


Book ID
116800270
Publisher
Elsevier Science
Year
2009
Tongue
English
Weight
627 KB
Volume
19
Category
Article
ISSN
0939-4753

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Spectrum of LDL receptor gene mutations
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Communicated by Alec J. Jeffreys Familial hypercholesterolemia by usual definition reflects mutations of the LDL-receptor gene. Extensive molecular characterization of mutations ascertained mainly through homozygotes (the Dallas collection) has been presented by Hobbs et al. (Hum Mutat 1:445-466, 19