A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Item
http://www.wikidata.org/entity/Q24627210
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 DiabetesMandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern ChinaBicodon bias can determine the role of synonymous SNPs in human diseases.Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome.Previously Unidentified Single Nucleotide Polymorphisms in HIV/AIDS Cases Associate with Clinical Parameters and Disease Progression.Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy.Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers.Mapping disease-related missense mutations in the immunoglobulin-like fold domain of lamin A/C reveals novel genotype-phenotype associations for laminopathies.Acroosteolysis presenting with brachyonychia following exposure to cold.
P2860

A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome

Item
http://www.wikidata.org/entity/Q24627210
description
2012 nî lūn-bûn
@nan
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@ast
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@en
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@nl
type
label
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@ast
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@en
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@nl
prefLabel
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@ast
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@en
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
A novel homozygous p.Arg527Leu ...... ysplasia and progeria syndrome
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P50
P577
P5875
P6179
P698
P932