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Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia by Winnie Yang; Dr. William G. Cole is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia about?

## Pelmen Kniest dysplasia is a severe form of spondyloepiphyseal dysplasia with short-trunk dwarfism, kyphosc?liosis, enlarged joints, midface hypoplasia, cleft palate, myopia, and deafness (Spranger et al., 1994). Heterozygous mutations of COL2A1 that encodes the a1 (11) chains of type I1 collagen have been identified in a few cases. They include a deletion of exon 12 (Winterpacht et al., 1993), partial skipping of exon 12 (Bogaert et al., 1994), a point mutation in exon 12 resulting in a G103D substitution (Wilkin et al., 1994), partial skipping of exons 21 and 49 (Winterpacht et al., 1993(Winterpacht et al., , 1994)), and skipping of exon 24 (Wilkin et al., 1993). Here, we describe the third unrelated case of Kniest dysplasia due to a heterozygous transition that results in partial skipping of exon 12 encoded sequences. The findings define a CG di-

Who reads Low basal transcripts of the COL2A1 collagen gene from lymphoblasts show alternative splicing of exon 12 in the kniest form of spondyloepiphyseal dysplasia?

Author

Winnie Yang; Dr. William G. Cole

Publisher

Hindawi Limited

Published

1998

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)