Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome (Q48302894)

10 February 2018

title

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome (English)

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10 February 2018

progressive myoclonus epilepsy

main subject

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9

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Steven Frucht

Steven Frucht

7

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Coro Paisán-Ruíz

10

Coro Paisán-Ruiz

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Siamak Karkheiran

1

Siamak Karkheiran

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Hossein Darvish

6

Hossein Darvish

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10 February 2018

author name string

Catharine E Krebs

2

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Vladimir Makarov

3

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Yalda Nilipour

4

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Benjamin Hubert

5

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Gholam Ali Shahidi

8

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publication date

9 November 2012

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10 February 2018

published in

Human Genetics

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10 February 2018

volume

132

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issue

3

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page(s)

275-283

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A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome

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Clinical and neurophysiologic features of progressive myoclonus epilepsy without renal failure caused by SCARB2 mutations.

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Two promoters control the transcription of the human alpha 2(VI) collagen gene

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Homozygosity mapping through whole genome analysis identifies a COL18A1 mutation in an Indian family presenting with an autosomal recessive neurological disorder

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Cystatin B: mutation detection, alternative splicing and expression in progressive myclonus epilepsy of Unverricht-Lundborg type (EPM1) patients

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Tissue-specific forms of type IX collagen-proteoglycan arise from the use of two widely separated promoters

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10.1007/S00439-012-1248-1

Identifiers

DOI

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10 February 2018

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10 February 2018