(Q47418185)

16 January 2018

title

Shocking degeneration. (English)

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16 January 2018

author name string

Rainer Benndorf

series ordinal

1

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16 January 2018

Michael J Welsh

series ordinal

2

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16 January 2018

language of work or name

English

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publication date

1 June 2004

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16 January 2018

published in

Nature Genetics

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16 January 2018

volume

36

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16 January 2018

page(s)

547-548

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16 January 2018

issue

6

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16 January 2018

https://scigraph.springernature.com/pub.10.1038/ng0604-547

exact match

0 references

cites work

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Myofibrillar myopathy caused by novel dominant negative alpha B-crystallin mutations.

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

The human genome encodes 10 alpha-crystallin-related small heat shock proteins: HspB1-10

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

The sperm outer dense fiber protein is the 10th member of the superfamily of mammalian small stress proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0604-547

7 January 2021

Identifiers

DOI

10.1038/NG0604-547

1 reference

16 January 2018

PubMed ID

15167925

1 reference

16 January 2018