A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th (Q42829232)
scientific article published on September 1994
Language:
(P31) (Q13442814)
(P304) 729-735
(P407) (Q1860)
(P478) 302 ( Pt 3)
(P577) Thursday, September 1, 1994
(P1433) (Q864221)
(P1476) "A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing th" (language: en)
(P2093) Bateman JF
Chan D
Moeller I
Hannagan M
Cole WG
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other details
description scientific article published on September 1994

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