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A 931 + 2T → C transition in one COL1A2 allele causes exon 16 skipping in PROα2(I) mRNA and produces moderately severe OI

✍ Scribed by Francesca Zolezzi; Antonella Forlino; Monica Mottes; Maurizia Valli; Alberto Sensi; Elisa Calzolari; Pier Franco Pignatti; Giuseppe Cetta

Book ID
102261594
Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
357 KB
Volume
6
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Durwin I. Pruckop 'The muunt allele has been designated as suggested by Beaudet and Tsui (1993) Hum Mut 2245.

📜 SIMILAR VOLUMES

A de novo G+1 → a mutation at the α2(I)
A de novo G+1 → a mutation at the α2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI Type IV proband
✍ Jane D. Filie; Bonnie M. Orrison; Qin Wang; Mary Beth Lewis; Joan C. Marini 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 839 KB

Communicaced by Chrles 1. Epsrein We have investigated the procollagen, collagen, a2(I) mRNA, and DNA of a proband with type IV 01. The proband synthesized two a 2 ( I) chains, one with normal electrophoretic migration and one more rapidly migrating. The fast a 2 ( I ) chain was relatively retained