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 (Q83220763)
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scientific article published on 01 February 2009
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | 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 |
scientific article published on 01 February 2009 |
Statements
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 (English)
C L S Turner
H Emery
A L Collins
R J Howarth
C M Yearwood
E Cross
P J Duncan
D J Bunyan
J F Harvey
1 February 2009