Hutchinson-Gilford progeria syndrome

Hutchinson–Gilford progeria syndrome (HGPS) is an extremely rare genetic disorder that causes premature, rapid aging shortly after birth. Recently, de novo point mutations in the Lmna gene have been found in individuals with HGPS. Lmna encodes lamin A and C, the A‐type lamins, which are an important...

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Veröffentlicht in:	Clinical genetics 2004-11, Vol.66 (5), p.375-381
Hauptverfasser:	Pollex, RL, Hegele, RA
Format:	Artikel
Sprache:	eng
Schlagworte:	ageing Aging Aging - genetics Alleles Alternative Splicing - genetics Animals atherosclerosis Atherosclerosis (general aspects, experimental research) Biological and medical sciences Blood and lymphatic vessels Cardiology. Vascular system Cardiovascular Diseases - genetics Dermatology General aspects. Genetic counseling Genetics Humans Lamin Type A laminopathies Lamins - genetics lipodystrophy Medical disorders Medical genetics Medical sciences Mice Mutation - genetics nuclear envelope Progeria - diagnosis Progeria - genetics Protein Isoforms - genetics Skin involvement in other diseases. Miscellaneous. General aspects
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