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Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick type

✍ Scribed by Tiller, George E.; Polumbo, Paula A.; Weis, Mary Ann; Bogaert, Ray; Lachman, Ralph S.; Cohn, Daniel H.; Rimoin, David L.; Eyre, David R.

Book ID
109917929
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
420 KB
Volume
11
Category
Article
ISSN
1061-4036

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A specific collagen type II gene (COL2A1
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Widely distributed mutations in the COL2
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis
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The COL2A1 gene was assayed for mutations in genomic DNA from 12 patients with achondrogenesis type II/hypochondrogenesis. The exons and flanking sequences of the 54 exons in the COL2A1 gene were amplified by a series of specific primers using PCR. The PCR products were scanned for mutations by conf