(Q28287992)

English

Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome)

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scholarly article

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Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweymüller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome) (English)

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based on heuristic

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Stickler syndrome

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based on heuristic

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based on heuristic

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author name string

T Pihlajamaa

1

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D J Prockop

2

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J Faber

3

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A Winterpacht

4

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B Zabel

5

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A Giedion

6

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P Wiesbauer

7

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J Spranger

8

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L Ala-Kokko

9

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language of work or name

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publication date

2 November 1998

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American Journal of Medical Genetics Part A

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80

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2

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115-20

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Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)

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https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819981102%2980%3A2%3C115%3A%3AAID-AJMG5%3E3.0.CO%3B2-O

21 January 2018

Weissenbacher-Zweymüller syndrome: a distinct autosomal recessive skeletal dysplasia

1 reference

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21 January 2018

The Weissenbacter-Zweymuller syndrome. A case report with review of the world literatue

1 reference

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21 January 2018

Detection of mismatched bases in double stranded DNA by gel electrophoresis

1 reference

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21 January 2018

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

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21 January 2018

A bone dysplasia with deafness

1 reference

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21 January 2018

Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature

1 reference

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21 January 2018

Collagens: molecular biology, diseases, and potentials for therapy

1 reference

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21 January 2018

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen

1 reference

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21 January 2018

A fourth example suggests that premature termination codons in the COL2A1 gene are a common cause of the Stickler syndrome: analysis of the COL2A1 gene by denaturing gradient gel electrophoresis

1 reference

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21 January 2018

DNA sequencing with chain-terminating inhibitors

1 reference

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21 January 2018

Oto- spondylo-megaepiphyseal dysplasia (OSMED): clinical description of three patients homozygous for a missense mutation in the COL11A2 gene

1 reference

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21 January 2018

Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus

1 reference

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21 January 2018

Type II collagen mutations in rare and common cartilage diseases

1 reference

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21 January 2018

The human COL11A2 gene structure indicates that the gene has not evolved with the genes for the major fibrillar collagens

1 reference

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21 January 2018

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

1 reference

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21 January 2018

The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasia

1 reference

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21 January 2018

Procollagen II Gene Mutation in Stickler Syndrome

1 reference

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21 January 2018

Identifiers

10.1002/(SICI)1096-8628(19981102)80:2<115::AID-AJMG5>3.0.CO;2-O

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