Cohen Syndrome Is Caused by Mutations in a Novel Gene, COH1, Encoding a Transmembrane Protein with a Presumed Role in Vesicle-Mediated Sorting and Intracellular Protein Transport
The American Journal of Human Genetics2003Vol. 72(6), pp. 1359–1369
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Juha Kolehmainen, Graeme C. Black, Anne Saarinen, Kate Chandler, Jill Clayton‐Smith, Ann‐Liz Träskelin, Rahat Perveen, Satu Kivitie‐Kallio, Reijo Norio, Mette Warburg, Jean‐Pierre Fryns, Albert de la Chapelle, Anna‐Elina Lehesjoki
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