Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
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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 DiabetesPhenotypic heterogeneity of ZMPSTE24 deficiencyStructural analysis of the ternary complex between lamin A/C, BAF and emerin identifies an interface disrupted in autosomal recessive progeroid diseases
P2860
Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
@en
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
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type
label
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
@en
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
@nl
prefLabel
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
@en
Progeroid laminopathy with res ...... disomic LMNA mutation p.R435C.
@nl
P2093
P2860
P356
P1433
P1476
Progeroid laminopathy with res ...... odisomic LMNA mutation p.R435C
@en
P2093
Daria Camozzi
Diana Mitter
Lars Christian Horn
Manfred Wehnert
Manuela Siekmeyer
Peter Meinke
Roland Pfaeffle
Sven Starke
Uwe Paasch
Wieland Kiess
P2860
P304
P356
10.18632/AGING.100566
P577
2013-06-01T00:00:00Z