A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families (Q24318493)
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| Language | Label | Description | Also known as |
|---|---|---|---|
| English | A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families |
scientific article |
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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families (English)
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N P Burrows
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A C Nicholls
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A J Richards
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C Luccarini
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J B Harrison
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J R Yates
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F M Pope
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