Concepedia

ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet,

The American Journal of Human Genetics · 2004 · 281 citations · 8 references

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Online Mendelian Inheritance in Man 'OMIM'.

Sangeeta Amladi · PubMed · 2007 · 870 citations · Full text

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Mutations and common polymorphisms in <i>ADAMTS13</i> gene responsible for von Willebrand factor-cleaving protease activity

Koichi Kokame, Masanori Matsumoto, Kenji Soejima et al. · Proceedings of the National Academy of Sciences · 2002 · 411 citations

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Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene

Alain Colige, Aleksander L. Sieroń, Shi-Wu Li et al. · The American Journal of Human Genetics · 1999 · 365 citations · Full text

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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome: Figure 1

Laurence Faivre, Robert J. Gorlin, Mary K. Wirtz et al. · Journal of Medical Genetics · 2003 · 281 citations · Full text

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Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains

Santiago Cal, Álvaro J. Obaya, Cecilia Garabaya et al. · Gene · 2002 · 273 citations · Full text

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