(Q28144096)

English

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

scientific article (publication date: 19 May 1999)

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title

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy (English)

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1 reference

1 reference

G Pepe

1

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Betti Giusti

object named as

B Giusti

series ordinal

2

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Enrico Bertini

object named as

E Bertini

series ordinal

3

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author name string

T Brunelli

series ordinal

4

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B Saitta

series ordinal

5

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P Comeglio

series ordinal

6

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A Bolognese

series ordinal

7

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L Merlini

series ordinal

8

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G Federici

series ordinal

9

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R Abbate

series ordinal

10

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M L Chu

series ordinal

11

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language of work or name

English

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publication date

19 May 1999

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published in

Biochemical and Biophysical Research Communications

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volume

258

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issue

3

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page(s)

802-7

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Identifiers

DOI

10.1006/BBRC.1999.0680

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PubMed publication ID

10329467

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ResearchGate publication ID

221999815

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(Q28144096)

A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy

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