Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 2051-5960

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders ; volume:5 ; number:1 ; day:13 ; month:11 ; year:2017 ; pages:1-14 ; date:12.2017
Acta Neuropathologica Communications ; 5, Heft 1 (13.11.2017), 1-14, 12.2017

Keyword: Kardiovaskuläre Krankheit

Creator: Nagata, Kenichi

Contributor: Takahashi, Mika
Kiryu-Seo, Sumiko
Kiyama, Hiroshi
Saido, Takaomi C.
SpringerLink (Online service)

DOI: 10.1186/s40478-017-0486-9

URN: urn:nbn:de:1111-201801121459

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:59 AM CEST

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Nagata, Kenichi
Takahashi, Mika
Kiryu-Seo, Sumiko
Kiyama, Hiroshi
Saido, Takaomi C.
SpringerLink (Online service)

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Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

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Other Objects (12)

Current progress in understanding the molecular pathogenesis of burn scar contracture

Making sense of missense variants in TTN-related congenital myopathies

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Congenital hypothyroidism: insights into pathogenesis and treatment

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

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Wine & dine

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Missense mutations in the CITED2 gene may contribute to congenital heart disease

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Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia

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