Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2051-5960
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
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
- Schlagwort
-
Kardiovaskuläre Krankheit
- Urheber
-
Nagata, Kenichi
- Beteiligte Personen und Organisationen
-
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
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:59 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Nagata, Kenichi
- Takahashi, Mika
- Kiryu-Seo, Sumiko
- Kiyama, Hiroshi
- Saido, Takaomi C.
- SpringerLink (Online service)
Ähnliche Objekte (12)
Current progress in understanding the molecular pathogenesis of burn scar contracture
Making sense of missense variants in TTN-related congenital myopathies
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Congenital hypothyroidism: insights into pathogenesis and treatment
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Dines, Iszak
Wine & dine
Jim Dine
The Pathogenesis of Glenohumeral Deformity and Contracture Formation in Obstetric Brachial Plexus Palsy—A Review
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
Missense mutations in the CITED2 gene may contribute to congenital heart disease
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture
Current progress in understanding the molecular pathogenesis of burn scar contracture
Making sense of missense variants in TTN-related congenital myopathies
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Congenital hypothyroidism: insights into pathogenesis and treatment
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Dines, Iszak
Wine & dine
Jim Dine
The Pathogenesis of Glenohumeral Deformity and Contracture Formation in Obstetric Brachial Plexus Palsy—A Review
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
Missense mutations in the CITED2 gene may contribute to congenital heart disease
Biallelic ERBB3 loss-of-function variants are associated with a novel multisystem syndrome without congenital contracture
Current progress in understanding the molecular pathogenesis of burn scar contracture
Making sense of missense variants in TTN-related congenital myopathies
Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia
Congenital hypothyroidism: insights into pathogenesis and treatment
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia
Dines, Iszak
Wine & dine
Jim Dine
The Pathogenesis of Glenohumeral Deformity and Contracture Formation in Obstetric Brachial Plexus Palsy—A Review
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
Missense mutations in the CITED2 gene may contribute to congenital heart disease