p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria (Q45204455)

10 December 2017

title

p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria (English)

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10 December 2017

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Janbernd Kirschner

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Rudolf Korinthenberg

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Uwe-Peter Ketelsen

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10 December 2017

Carsten G Bönnemann

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Thomas Brune

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Manfred Wehnert

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Jonas Denecke

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Christina Wasner

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Anja Feuer

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Thorsten Marquardt

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Peter Wieacker

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language of work or name

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1 January 2005

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10 December 2017

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10 December 2017

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10 December 2017

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10 December 2017

page(s)

148-151

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Lamin a truncation in Hutchinson-Gilford progeria.

10 December 2017

cites work

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

21 January 2018

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LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090).

21 January 2018

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LMNA mutations in atypical Werner's syndrome

21 January 2018

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How do mutations in lamins A and C cause disease?

21 January 2018

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Lamins: building blocks or regulators of gene expression?

21 January 2018

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A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy

21 January 2018

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A new clinical condition linked to a novel mutation in lamins A and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy

21 January 2018

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Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes

21 January 2018

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A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.

21 January 2018

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Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome

21 January 2018

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Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study

21 January 2018

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Detecting single base substitutions as heteroduplex polymorphisms

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.20359

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10 December 2017

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