(Q48251777)
Statements
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A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. (English)
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Cole WG
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Chiodo AA
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Lamande SR
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Janeczko R
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Ramirez F
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Dahl HH
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Chan D
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Bateman JF
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1 October 1990
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265
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28
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17070-17077
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