ECEL1mutation causes fetal arthrogryposis multiplex congenita

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Prenatal diagnosis of congenital myopathies and muscular dystrophies.Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.

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Q38838661-862E5F5E-2C3D-4CEF-A46C-99F2FB5D4929 Q47157588-E3257DE3-65F3-4142-8685-DCB5DA633623

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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http://www.wikidata.org/entity/Q58815641

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im Februar 2015 veröffentlichter wissenschaftlicher Artikel

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scientific article published on 23 February 2015

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wetenschappelijk artikel

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наукова стаття, опублікована в лютому 2015

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

@en

ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1 mutation causes fetal arthrogryposis multiplex congenita

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A Ernst

http://www.w3.org/2001/XMLSchema#string

A Petersen

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I S Pedersen

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M B Petersen

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N Dohrn

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P Skovbo

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V Q Le

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XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS

Diagnosing arthrogryposis multiplex congenita: a review

Arthrogryposis: a review and update

Structure of human endothelin-converting enzyme I complexed with phosphoramidon

Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy

A revised and extended classification of the distal arthrogryposes

Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family

Damage-induced neuronal endopeptidase (DINE) is a unique metallopeptidase expressed in response to neuronal damage and activates superoxide scavengers

Myotubular Myopathy

A framework for variation discovery and genotyping using next-generation DNA sequencing data

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731-743

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scholarly article

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10.1002/AJMG.A.37018

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English

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167A

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Henrik Krarup

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2015-02-23T00:00:00Z

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25708584

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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ECEL1mutation causes fetal arthrogryposis multiplex congenita

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P1476

P2093

P2860

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P356

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P577

P698

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P2093

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P407

P433

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P577

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