(Q28277606)

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Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

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title

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1 (English)

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main subject

Spondyloperipheral dysplasia

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8

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Andrea Superti-Furga

series ordinal

10

object named as

Andrea Superti-Furga

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author name string

Andreas Zankl

series ordinal

1

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Bernhard Zabel

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2

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Katja Hilbert

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3

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Gabi Wildhardt

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4

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Segoleine Cuenot

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5

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Belinda Xavier

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6

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Russia Ha-Vinh

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7

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Jürgen Spranger

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9

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language of work or name

English

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publication date

30 August 2004

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published in

American Journal of Medical Genetics Part A

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PubMed

volume

129A

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issue

2

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page(s)

144-8

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cites work

Protein consequences of the Col2a1 C-propeptide mutation in the chondrodysplastic Dmm mouse

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.30222

retrieved

21 January 2018

Identification of the molecular recognition sequence which determines the type-specific assembly of procollagen

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https://api.crossref.org/works/10.1002%2FAJMG.A.30222

retrieved

21 January 2018

Integration of splicing, transport and translation to achieve mRNA quality control by the nonsense-mediated decay pathway

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2FAJMG.A.30222

retrieved

21 January 2018

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10.1002/AJMG.A.30222

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4087077

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release_xdy5gj4dirh6nnyjw3iijzn4wi

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https://api.fatcat.wiki/v0/release/xdy5gj4dirh6nnyjw3iijzn4wi

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24 November 2022

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OpenCitations bibliographic resource ID

4087077

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stated in

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

4087077

ResearchGate publication ID

8394524

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(Q28277606)

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1

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