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Recurrent Transition at a CG Dinucleotide in Exon 12 of COL2A1 Produces Kniest Dysplasia with Abnormal RNA Splicing by Chondrocytes and Lymphoblasts and Interruption of the Triple Helix of Type II Collagen a
Author(s) -
Chen Luping,
Yang Winnie,
Cole William G.
Publication year - 1996
Publication title -
annals of the new york academy of sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.712
H-Index - 248
eISSN - 1749-6632
pISSN - 0077-8923
DOI - 10.1111/j.1749-6632.1996.tb56270.x
Subject(s) - connective tissue , sick child , medicine , genetics , pathology , biology , pediatrics