Molecular Analysis of Collagen XVIII Reveals Novel Mutations, Presence of a Third Isoform, and Possible Genetic Heterogeneity in Knobloch Syndrome

Oscar Suzuki, Andréa L. Sertié, Vazken M. Der Kaloustian, Fernando Kok, Meredith L. Carpenter, Jeffrey C. Murray, A. Czeizel, Suzana Kliemann, Sérgio Rosemberg, Mário Luiz Ribeiro Monteiro,

The American Journal of Human Genetics · 2002 · 157 citations · 29 references

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