A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia Advances and insights into neurological practice 2016-17.Novel UCHL1 mutations reveal new insights into ubiquitin processing.

P2860

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P2860

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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2016 nî lūn-bûn

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2016年学术文章

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

@en

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

@en

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

@nl

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway

@en

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A-M Øye

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C M E Tallaksen

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I M Wedding

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M Chawla

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S L Rydning

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Y Sheng

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P2860

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

Spastic paraplegia type 7 is associated with multiple mitochondrial DNA deletions

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

SIFT: Predicting amino acid changes that affect protein function

A framework for variation discovery and genotyping using next-generation DNA sequencing data

Human non-synonymous SNPs: server and survey

Prediction of deleterious human alleles

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scholarly article

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10.1111/ENE.12937

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Kaja K Selmer

Magnus D Vigeland

Jeanette Koht

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2016-01-12T00:00:00Z

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290378679

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A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

about

P2860

P2860

A founder mutation p.H701P identified as a major cause of SPG7 in Norway.

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P1476

P2093

P2860

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P5875

P698