Gene conversion is a likely cause of mutation in PKD1

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Oxford University Press

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Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1

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Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis

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A Family with Stickler Syndrome Type 2 Has a Mutation in the COL11A1 Gene Resulting in the Substitution of Glycine 97 by Valine in a1(XI) Collagen

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