Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes (Q22010382)

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Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes
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    Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes (English)
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    H Kääriäinen
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    L Tranebjaerg
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    J R Cruysberg
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    S L Davenport
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    C A Friedrich
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    M R Krawczynski
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    October 1999
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    65
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    974-83
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