Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

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Fibrillins in Tendon A Marfan syndrome gene expression phenotype in cultured skin fibroblasts.Elastic fibres are broadly distributed in tendon and highly localized around tenocytes.Does human leukocyte elastase degrade intact skin elastin?

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Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

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http://www.wikidata.org/entity/Q39538723

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2000 nî lūn-bûn

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2000年の論文

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2000年論文

@yue

2000年論文

@zh-hant

2000年論文

@zh-hk

2000年論文

@zh-mo

2000年論文

@zh-tw

2000年论文

@wuu

2000年论文

@zh

2000年论文

@zh-cn

name

Elastic-fiber pathologies: pri ...... ders in transport and delivery

@en

Elastic-fiber pathologies: pri ...... ers in transport and delivery.

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Item

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Elastic-fiber pathologies: pri ...... ders in transport and delivery

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Elastic-fiber pathologies: pri ...... ers in transport and delivery.

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Elastic-fiber pathologies: pri ...... ders in transport and delivery

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Elastic-fiber pathologies: pri ...... ers in transport and delivery.

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Elastic-fiber pathologies: pri ...... ders in transport and delivery

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Boyd CD

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Cutis laxa arising from frameshift mutations in exon 30 of the elastin gene (ELN)

An elastin gene mutation producing abnormal tropoelastin and abnormal elastic fibres in a patient with autosomal dominant cutis laxa

Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Molecular genetics and pathophysiology of Menkes disease

Mutations in ABCC6 cause pseudoxanthoma elasticum

The 67-kDa enzymatically inactive alternatively spliced variant of beta-galactosidase is identical to the elastin/laminin-binding protein

Decreased elastin deposition and high proliferation of fibroblasts from Costello syndrome are related to functional deficiency in the 67-kD elastin-binding protein

Elastin: molecular description and function.

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4-7

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scholarly article

editorial

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10.1086/302987

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English

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Zsolt Urban

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2000-06-06T00:00:00Z

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12476123

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10841812

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1287100

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Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

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P2860

P2860

Elastic-fiber pathologies: primary defects in assembly-and secondary disorders in transport and delivery

description

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type

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prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P5875

P698

P932