Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene (Q81591752)

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10 January 2020

title

Molecular genetics of a patient with Mohr-Tranebjaerg Syndrome due to a new mutation in the DDP1 gene (English)

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10 January 2020

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1

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10 January 2020

author name string

Abelardo Solano

2

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10 January 2020

Paz Briones

3

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10 January 2020

Jesús Angel Prieto-Ruiz

4

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10 January 2020

José Hernández-Yago

5

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10 January 2020

Francisco Coria

6

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10 January 2020

publication date

3 August 2007

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10 January 2020

published in

NeuroMolecular Medicine

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10 January 2020

volume

9

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10 January 2020

issue

4

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10 January 2020

page(s)

285-291

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https://scigraph.springernature.com/pub.10.1007/s12017-007-8000-3

10 January 2020

exact match

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The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex

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A novel mutation in the gene encoding TIMM8a, a component of the mitochondrial protein translocase complexes, in a Spanish familial case of deafness-dystonia (Mohr–Tranebjaerg) syndrome

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