(Q41080681)

26 September 2017

title

G to C transversion at a splice acceptor site causes exon skipping in the cystatin B gene (English)

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26 September 2017

3

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26 September 2017

Bespalova IN

1

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26 September 2017

Pranzatelli M

series ordinal

2

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26 September 2017

language of work or name

English

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publication date

1 September 1997

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26 September 2017

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26 September 2017

volume

382

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26 September 2017

issue

1-2

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26 September 2017

page(s)

67-74

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A clinical and electrophysiological evaluation of myoclonus

26 September 2017

cites work

1 reference

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7 January 2021

Psychological findings in progressive myoclonus epilepsy without Lafora bodies.

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7 January 2021

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Identical genetic locus for Baltic and Mediterranean myoclonus

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

"Baltic" myoclonus epilepsy: hereditary disorder of childhood made worse by phenytoin

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Homovanillic acid and 5-hydroxyindoleacetic acid levels in cerebrospinal fluid of patients with progressive myoclonus epilepsy

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Neuropharmacology of progressive myoclonus epilepsy: response to 5-hydroxy-L-tryptophan

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

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https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Amino acid sequence of the intracellular cysteine proteinase inhibitor cystatin B from human liver

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

Unusual scarcity of restriction site polymorphism in the human thyroglobulin gene. A linkage study suggesting autosomal dominance of a defective thyroglobulin allele

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

PCR amplification of long DNA fragments

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

A-2-->G transition at the 3' acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original Stickler syndrome kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

An IVS1-116 (A-->G) acceptor splice site mutation in the alpha 2 globin gene causing alpha + thalassaemia in two Dutch families.

1 reference

https://api.crossref.org/works/10.1016%2FS1383-5726%2897%2900010-1

7 January 2021

10.1016/S1383-5726(97)00010-1

Identifiers

DOI

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26 September 2017

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