(Q24314597)

English

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

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title

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 (English)

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main subject

Collagen type XI alpha 1 chain

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stated in

GOA release 2020-03-11

visual perception

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stated in

GOA release 2020-03-11

Stickler syndrome

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based on heuristic

inferred from title

Stickler syndrome type 2

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A J Richards

1

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J R Yates

series ordinal

2

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R Williams

series ordinal

3

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S J Payne

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4

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F M Pope

series ordinal

5

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J D Scott

series ordinal

6

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M P Snead

series ordinal

7

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language of work or name

English

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publication date

September 1996

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published in

Human Molecular Genetics

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volume

5

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page(s)

1339-43

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issue

9

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(Q24314597)

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

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