(Q28143248)

English

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia

scientific article (publication date: July 1999)

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title

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia (English)

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main subject

diastrophic dysplasia

1 reference

1 reference

A Mégarbané

1

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F A Haddad

series ordinal

2

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S Haddad-Zebouni

series ordinal

3

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M Achram

series ordinal

4

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G Eich

series ordinal

5

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M Le Merrer

series ordinal

6

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A Superti-Furga

series ordinal

7

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language of work or name

English

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publication date

July 1999

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published in

Clinical Genetics

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volume

56

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issue

1

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page(s)

71-6

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cites work

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping

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Crossref

reference URL

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560110.X

retrieved

21 April 2017

Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: relationship to clinical severity and indications on the role of intracellular sulfate production

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034/J.1399-0004.1999.560110.X

retrieved

21 April 2017

The phenotypic variability of diastrophic dysplasia

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

21 January 2018

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

21 January 2018

Achondrogenesis type 1B

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reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

21 January 2018

Atelosteogenesis type 2.

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reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

21 January 2018

Diastrophic dysplasia: extreme variability within a sibship

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

7 January 2021

based on heuristic

inferred from DOI database lookup

International nomenclature and classification of the osteochondrodysplasias (1997). International Working Group on Constitutional Diseases of Bone

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stated in

Crossref

reference URL

https://api.crossref.org/works/10.1034%2FJ.1399-0004.1999.560110.X

retrieved

7 January 2021

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Identifiers

DOI

10.1034/J.1399-0004.1999.560110.X

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PubMed publication ID

10466420

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(Q28143248)

Homozygosity for a novel DTDST mutation in a child with a 'broad bone-platyspondylic' variant of diastrophic dysplasia

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