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A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families. |
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| Authors: | N P Burrows A C Nicholls A J Richards C Luccarini J B Harrison J R Yates and F M Pope |
| Institution: | Department of Pathology, University of Cambridge, CB2 2QQ, United Kingdom. nburrows@hgmp.mrc.ac.uk |
| Abstract: | |
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