Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1471-2350

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype ; volume:14 ; number:1 ; day:8 ; month:10 ; year:2013 ; pages:1-10 ; date:12.2013
BMC medical genetics ; 14, Heft 1 (8.10.2013), 1-10, 12.2013

Creator: van Meel, Eline

Contributor: Wegner, Daniel J.
Cliften, Paul
Willing, Marcia C.
White, Frances V.
Kornfeld, Stuart
Cole, F Sessions
SpringerLink (Online service)

DOI: 10.1186/1471-2350-14-106

URN: urn:nbn:de:1111-2016071516391

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 14.08.2025, 10:52 AM CEST

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van Meel, Eline
Wegner, Daniel J.
Cliften, Paul
Willing, Marcia C.
White, Frances V.
Kornfeld, Stuart
Cole, F Sessions
SpringerLink (Online service)

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Rare recessive loss-of-function methionyl-tRNA synthetase mutations presenting as a multi-organ phenotype

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Other Objects (12)

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Multiorgan Visceral Hemangiomas Presenting with Sequential Ruptures and Hemorrhage, Cardiac Thrombus, and Thromboembolic Phenomenon

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Novel loss-of-function variants in CDC14A are associated with recessive sensorineural hearing loss in Iranian and Pakistani patients

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Burkitt Lymphoma with Multiorgan Involvement

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Chorea-Acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation

Autosomal recessive cerebellar ataxias

Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

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Chorea-Acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation

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Compound heterozygosity of predicted loss-of-function DESvariants in a family with recessive desminopathy

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Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects

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Burkitt Lymphoma with Multiorgan Involvement

Unforeseen complications: a case of dengue shock syndrome presenting with multi-organ dysfunction in a subtropical region

Chorea-Acanthocytosis presenting as autosomal recessive epilepsy in a family with a novel VPS13A mutation

Autosomal recessive cerebellar ataxias

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