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Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder. [electronic resource] by
- Mortier, G R
- Weis, M
- Nuytinck, L
- King, L M
- Wilkin, D J
- De Paepe, A
- Lachman, R S
- Rimoin, D L
- Eyre, D R
- Cohn, D H
Producer: 20000516
In:
Journal of medical genetics vol. 37
Availability: No items available.
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20.
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Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. [electronic resource] by
- Tavormina, P L
- Shiang, R
- Thompson, L M
- Zhu, Y Z
- Wilkin, D J
- Lachman, R S
- Wilcox, W R
- Rimoin, D L
- Cohn, D H
- Wasmuth, J J
Producer: 19950712
In:
Nature genetics vol. 9
Availability: No items available.
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