Laminopathies —one gene, multiple diseases / 北京大学学报(医学版)
Journal of Peking University(Health Sciences)
;
(6)2004.
Article
in Chinese
| WPRIM
| ID: wpr-556079
ABSTRACT
Laminopathies are genetic diseases that encompass a wide spectrum of phenotypes with diverse tissue pathologies and result mainly from mutations in the LMNA gene encoding nuclear lamin A/C. To date, at least 9 different human diseases, which superficially seem to share little with one another, result from LMNA mutations. The position of the mutation within LMNA appears to be associated with the phenotypes. This review gives an overview of genotype-phenotype relationship and describes recent advances in animal models and pathogenic mechanisms.
Full text:
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Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Journal of Peking University(Health Sciences)
Year:
2004
Type:
Article
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