LMNA , encoding lamin A/C, is mutated in partial lipodystrophy

The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable deg...

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Veröffentlicht in:	Nature genetics 2000-02, Vol.24 (2), p.153-156
Hauptverfasser:	Trembath, Richard C, Shackleton, Sue, Lloyd, David J, Jackson, Stephen N.J, Evans, Richard, Niermeijer, Martinus F, Singh, Baldev M, Schmidt, Hartmut, Brabant, Georg, Kumar, Sudesh, Durrington, Paul N, Gregory, Simon, O'Rahilly, Stephen
Format:	Artikel
Sprache:	eng
Schlagworte:	Adipose tissue Amino Acid Sequence Amino Acid Substitution Amino acids Animals Artificial chromosomes Base Sequence Biological and medical sciences Body fat chromosome 1 Chromosome Mapping Chromosomes, Human, Pair 1 Cloning Dermatology Diagnosis Dystrophy Female Gene mutations Genes Genetic aspects Genetic Markers Genetics Haplotypes Health aspects Heterogeneity Heterozygote Hospitals Humans Identification and classification Insulin lamin A/C protein Lamin Type A Lamins Lipodystrophy Lipodystrophy - genetics LMNA gene Male Medical sciences Mice Molecular Sequence Data Mutation Nuclear Proteins - chemistry Nuclear Proteins - genetics Pedigree Physiological aspects PLD gene Point Mutation Proteins Rats Risk factors Sequence Alignment Sequence Homology, Amino Acid Skin involvement in other diseases. Miscellaneous. General aspects
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