Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

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Location: Deutsche Nationalbibliothek Frankfurt am Main

Extent: Online-Ressource

Language: Englisch

Bibliographic citation: In: PLoS Genetics 13.3 (2017).

Keyword: -
Urologie
Urogenitalkrankheit
Harnwegskrankheit

Event: Veröffentlichung

(where): Erlangen

(who): Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)

(when): 2017

Creator: Connor, Thomas M.
Hoer, Simon
Mallett, Andrew
Gale, Daniel P.
Gomez-Duran, Aurora
Posse, Viktor
Antrobus, Robin
Moreno, Pablo
Sciacovelli, Marco
Frezza, Christian
Duff, Jennifer
Sheerin, Neil S.
Sayer, John A.
Ashcroft, Margaret
Wiesener, Michael S.
Hudson, Gavin
Gustafsson, Claes M.
Chinnery, Patrick F.
Maxwell, Patrick H.

URN: urn:nbn:de:bvb:29-opus4-82927

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 25.03.2025, 1:56 PM CET

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Associated

Connor, Thomas M.
Hoer, Simon
Mallett, Andrew
Gale, Daniel P.
Gomez-Duran, Aurora
Posse, Viktor
Antrobus, Robin
Moreno, Pablo
Sciacovelli, Marco
Frezza, Christian
Duff, Jennifer
Sheerin, Neil S.
Sayer, John A.
Ashcroft, Margaret
Wiesener, Michael S.
Hudson, Gavin
Gustafsson, Claes M.
Chinnery, Patrick F.
Maxwell, Patrick H.
Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU)

Time of origin

2017

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Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

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Other Objects (12)

Mutations in mitochondrial DNA causing tubulointerstitial kidney disease

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Strategies to prioritize potentially disease-causing mutations in Mendelian disorders

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Molecular pathomechanisms of ABCA3 mutations causing interstitial lung disease in children

Molecular pathomechanisms of ABCA3 mutations causing interstitial lung disease in children

GlyT1 encephalopathy: characterization of presumably disease causing GlyT1 mutations

Mitochondrial mutations can alter neuromuscular transmission in congenital myasthenic syndrome and mitochondrial disease

Sensory neuropathy-causing mutations in ATL3 affect ER–mitochondria contact sites and impair axonal mitochondrial distribution

Electrophysiological characterization of heart disease causing mutations in ion channels and ion channel modulators

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Strategies to prioritize potentially disease-causing mutations in Mendelian disorders

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Molecular pathomechanisms of ABCA3 mutations causing interstitial lung disease in children

Molecular pathomechanisms of ABCA3 mutations causing interstitial lung disease in children

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Mitochondrial mutations can alter neuromuscular transmission in congenital myasthenic syndrome and mitochondrial disease

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Electrophysiological characterization of heart disease causing mutations in ion channels and ion channel modulators

Different molecular features suggest distinct disease-causing mechanisms in MPL gain-of-function mutations

Disease causing mutations in G-protein-coupled receptors : molecular mechanisms and new therapeutic approaches

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Strategies to prioritize potentially disease-causing mutations in Mendelian disorders

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Molecular pathomechanisms of ABCA3 mutations causing interstitial lung disease in children

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GlyT1 encephalopathy: characterization of presumably disease causing GlyT1 mutations

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