Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping (Q28138516)
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scientific article (publication date: December 1999)
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping |
scientific article (publication date: December 1999) |
Statements
Characterization of the 415G>A (E139K) PMM2 mutation in carbohydrate-deficient glycoprotein syndrome type Ia disrupting a splicing enhancer resulting in exon 5 skipping (English)
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December 1999
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14
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6
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543-4
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