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Dominant mutations in the type II collagen gene (COL2A1) produce spondyloepimetaphyseal dysplasia (SEMD), sturdwick type

✍ Scribed by Tiller, G.E.; Weis, M.A.; Polumbo, P.A.; Cohn, D.H.; Rimoin, D.L.; Eyre, D.R.

Book ID
122967203
Publisher
Elsevier Science
Year
1994
Tongue
English
Weight
103 KB
Volume
14
Category
Article
ISSN
0945-053X

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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