(Q28203589)

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Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

scientific article (publication date: September 2003)

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title

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400) (English)

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main subject

spondyloepiphyseal dysplasia tarda

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3

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Ravi Savarirayan

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1

object named as

Ravi Savarirayan

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author name string

Elizabeth Thompson

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2

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language of work or name

English

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publication date

September 2003

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published in

European Journal of Human Genetics

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volume

11

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issue

9

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page(s)

639-42

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cites work

International nosology and classification of constitutional disorders of bone (2001).

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Crossref

reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

retrieved

21 January 2018

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

retrieved

21 January 2018

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

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21 January 2018

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

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21 January 2018

TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

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21 January 2018

Crystal structure of SEDL and its implications for a genetic disease spondyloepiphyseal dysplasia tarda

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

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21 January 2018

Loss of the SEDL gene product (Sedlin) causes X-linked spondyloepiphyseal dysplasia tarda: Identification of a molecular defect in a Japanese family

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reference URL

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

retrieved

21 January 2018

A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201025

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21 January 2018

A novel nonsense mutation of the sedlin gene in a family with spondyloepiphyseal dysplasia tarda

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21 January 2018

Spondylo-epiphyseal dysplasia tarda. The X-linked variety in three brothers

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7 January 2021

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Basic phenotypic analysis of six novel yeast genes reveals two essential genes and one which affects the growth rate

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7 January 2021

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An exonic mutation of the GH-1 gene causing familial isolated growth hormone deficiency type II

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7 January 2021

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Identifiers

DOI

10.1038/SJ.EJHG.5201025

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release_jjvzymzr3jacrhc4owhvprzw7m

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24 November 2022

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PubMed publication ID

12939648

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ResearchGate publication ID

10596354

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(Q28203589)

Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400)

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