Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.

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@article{Turner2009DetectionO5, title={Detection of 53 FBN1 mutations (41 novel and 12 recurrent) and genotype-phenotype correlations in 113 unrelated probands referred with Marfan syndrome, or a related fibrillinopathy.}, author={Claire Turner and Helen M Emery and Amanda L. Collins and R. J. Howarth and Catharina Yearwood and Esta Cross and Philippa J Duncan and David Bunyan and John F. Harvey and Nicola C. Foulds}, journal={American journal of medical genetics. Part A}, year={2009}, volume={149A 2}, pages={161-70} }