(Q24318933)

GOA release 2020-03-11

muscle organ development

1 reference

GOA release 2020-03-11

1 reference

F Baas

7

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author name string

G J Jöbsis

1

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H Keizers

2

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J P Vreijling

3

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M de Visser

4

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M C Speer

5

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R A Wolterman

6

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P A Bolhuis

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

8

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language of work or name

English

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publication date

September 1996

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published in

Nature Genetics

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volume

14

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issue

1

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page(s)

113-5

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cites work

1 reference

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

20 April 2017

1 reference

Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex

20 April 2017

1 reference

Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy

20 April 2017

1 reference

Interaction of the NG2 chondroitin sulfate proteoglycan with type VI collagen

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Structural and functional features of the alpha 3 chain indicate a bridging role for chicken collagen VI in connective tissues

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Genetic localization of Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy)

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Further investigations on benign myopathy with autosomal dominant inheritance

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Delayed helix formation of mutant collagen

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Location of the integrin complex and extracellular matrix molecules at the chicken myotendinous junction

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Immunochemistry, genuine size and tissue localization of collagen VI.

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Cloning of alpha 2 chain of type VI collagen and expression during mouse development.

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Dystrophin-associated proteins in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021

Avoiding recomputation in linkage analysis.

1 reference

https://api.crossref.org/works/10.1038%2FNG0996-113

7 January 2021