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Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China

✍ Scribed by Zhang, Hui; Chen, Xilan; Guo, Yifeng; Liang, Jianying; Tang, Li; Yu, Hong; Yao, Zhirong


Book ID
123168173
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
384 KB
Volume
69
Category
Article
ISSN
1097-6787

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Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature aging disorder normally caused by a spontaneous heterozygous mutation in the LMNA gene that codes for the nuclear lamina protein lamin A. Several enzymes are involved in the processing of its precursor, prelamin A, to the mature lamin A