(Q50513836)
Statements
Identification of a new heterozygous point mutation in the COL1A2 gene leading to skipping of exon 9 in a patient with joint laxity, hyperextensibility of skin and blue sclerae. Mutations in brief no. 166. Online. (English)
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Feshchenko S
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Brinckmann J
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Lehmann HW
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Koch HG
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Müller PK
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Kügler S
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1 January 1998
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12
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2
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138
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