Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis von Wang, Tao, Waters, Caroline T., Rothman, Alex M.K., Jakins, Tracy J., Römisch, Karin, Trump, Dorothy

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A recurrent deletion in the ubiquitously expressed NEMO (IKK-γ) gene accounts for the vast majority of incontinentia pigmenti mutations von ARADHYA, Swaroop, WOFFENDIN, Hayley, LEWIS, Richard A, KENWRICK, Sue, NELSON, David L, JAKINS, Tracy, BARDARO, Tiziana, ESPOSITO, Teresa, SMAHI, Asmae, SHAW, Christine, LEVY, Moise, MUNNICH, Arnold, D'URSO, Michele

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X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation von Woffendin, Hayley, Jakins, Tracy, Jouet, Monique, Stewart, Helen, Landy, Sarah, Haan, Eric, Harris, Ann, Donnai, Dian, Read, Andrew, Kenwrick, Sue

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Molecular analysis of the mature T cell proliferation-1 (MTCP-1) gene in Xq28-linked incontinentia pigmenti von Woffendin, H, Esposito, T, Jakins, T, Bardaro, T, Stern, M H, Kenwrick, S

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