LMNA mutations in atypical Werner's syndrome (Q28202570)

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Lin Lee

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Brian A Kudlow

3

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Heloisa G Dos Santos

4

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Olav Sletvold

5

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Yousef Shafeghati

6

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Eleanor G Botha

7

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Abhimanyu Garg

8

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Nancy B Hanson

9

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George M Martin

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I Saira Mian

11

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Brian K Kennedy

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Junko Oshima

Positional cloning of the Werner's syndrome gene

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language of work or name

English

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publication date

9 August 2003

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published in

The Lancet

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volume

362

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issue

9382

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page(s)

440-5

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Homozygosity mapping of the Werner syndrome locus (WRN)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Life at the edge: the nuclear envelope and human disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Lamin a truncation in Hutchinson-Gilford progeria.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Gapped BLAST and PSI-BLAST: a new generation of protein database search programs

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Nuclear organization of DNA replication in primary mammalian cells.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

A Review of its Symptomatology, Natural History, Pathologic Features, Genetics And Relationship to the Natural Aging Process

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Lamins: building blocks or regulators of gene expression?

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Genetic variation in LMNA modulates plasma leptin and indices of obesity in aboriginal Canadians

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Conserved segments 1A and 2B of the intermediate filament dimer: their atomic structures and role in filament assembly

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Clinical, demographic, and genetic aspects of the Werner syndrome in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

The nuclear envelope, muscular dystrophy and gene expression

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

A role for both RB and p53 in the regulation of human cellular senescence

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021

Roles of the Werner syndrome protein in pathways required for maintenance of genome stability

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2803%2914069-X

7 January 2021