Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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2004 nî lūn-bûn

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2004年の論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年論文

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2004年论文

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2004年论文

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2004年论文

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name

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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prefLabel

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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P1476

Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.

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P2093

Damian C Crowther

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David A Lomas

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Didier Belorgey

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Kerri J Kinghorn

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Lynda K Sharp

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P2860

Alpha1-antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapy

Inactive conformation of the serpin alpha(1)-antichymotrypsin indicates two-stage insertion of the reactive loop: implications for inhibitory function and conformational disease

Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro

Association between conformational mutations in neuroserpin and onset and severity of dementia

The serpins are an expanding superfamily of structurally similar but functionally diverse proteins. Evolution, mechanism of inhibition, novel functions, and a revised nomenclature

Elucidation of the molecular logic by which misfolded alpha 1-antitrypsin is preferentially selected for degradation.

Alpha-1-antitrypsin PI phenotypes S and Z in Europe: an analysis of the published surveys.

The mechanism of Z alpha 1-antitrypsin accumulation in the liver.

Alpha1-antitrypsin deficiency--a model for conformational diseases.

Accumulation of PiZ alpha 1-antitrypsin causes liver damage in transgenic mice.

P2888

sj.ejhg.5201127

P304

167-172

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P31

scholarly article

review article

P356

10.1038/SJ.EJHG.5201127

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P433

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P478

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P50

Elena Miranda

P577

2004-03-01T00:00:00Z

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P5875

8943881

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P698

14694355

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