Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

Item
http://www.wikidata.org/entity/Q32086452
Semi-automated segmentation and quantification of adipose tissue in calf and thigh by MRI: a preliminary study in patients with monogenic metabolic syndrome.Porcine LMNA Is a Positional Candidate Gene Associated with Growth and Fat Deposition.Thematic review series: Adipocyte Biology. Lipodystrophies: windows on adipose biology and metabolism.Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutationsFamilial partial lipodystrophy, Dunnigan variety - challenges for patient care during pregnancy: a case report.Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency.Long-term efficacy of leptin replacement in patients with Dunnigan-type familial partial lipodystrophy.Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome.Increased skeletal muscle volume in women with familial partial lipodystrophy, Dunnigan varietyThe R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stressA novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.
P2860

Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene.

Item
http://www.wikidata.org/entity/Q32086452
description
2001 nî lūn-bûn
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2001 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@ast
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@en
type
label
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@ast
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@en
prefLabel
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@ast
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Phenotypic heterogeneity in pa ...... e mutations in lamin a/c gene.
@en
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698