(Q57588441)

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A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen

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9 December 2019

A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen (English)

1 reference

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399756%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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Guglielmina Pepe

1

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9 December 2019

2

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9 December 2019

3

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9 December 2019

Luciano Merlini

7

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9 December 2019

author name string

T Brunelli

4

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9 December 2019

P Comeglio

5

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9 December 2019

B Saitta

6

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9 December 2019

G Federici

9

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9 December 2019

R Abbate

10

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9 December 2019

M L Chu

8

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9 December 2019

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1 June 1999

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9 December 2019

Neuromuscular Disorders

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9 December 2019

9

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9 December 2019

4

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9 December 2019

264-271

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9 December 2019

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic localization of Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

The exon organization of the triple-helical coding regions of the human α1(VI) and α2(VI) collagen genes is highly similar

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A highly polymorphic (ACT)n VNTR (variable nucleotide of tandem repeats) locus inside intron 12 of COL1A2, one of the two genes involved in dominant osteogenesis imperfecta.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of a polymorphic CA repeat in the COL6A2 gene on human chromosome 21q22.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

CA repeat polymorphism of the COL6A3 gene on chromosome 2q37.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome.

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

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

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900014-0

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(99)00014-0

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399756%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10399756%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

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