Concepedia

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

Alexandre Fabre, Bernard Charroux, Christine Martinez‐Vinson, Bertrand Roquelaure, Ersin Sayar, Hilary A. Smith, V. Colomb, Nicolás André, Jean‐Pierre Hugot, Olivier Goulet,

The American Journal of Human Genetics · 2012 · 158 citations · 14 references

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14

The human PAF complex coordinates transcription with events downstream of RNA synthesis

Bing Zhu, Subhrangsu S. Mandal, Anh-Dung Pham et al. · Genes & Development · 2005 · 238 citations · Full text

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The yeast antiviral proteins Ski2p, Ski3p, and Ski8p exist as a complex in vivo

Justin T. Brown, X.C. Bai · RNA · 2000 · 179 citations · Full text

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Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

Jane Hartley, Nicholas C. Zachos, Ban B. Dawood et al. · Gastroenterology · 2010 · 152 citations · Full text

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Intractable infant diarrhea associated with phenotypic abnormalities and immunodeficiency

D Girault, Olivier Goulet, Françoise Le Deist et al. · The Journal of Pediatrics · 1994 · 130 citations

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Tricho-hepato-enteric syndrome: Further delineation of a distinct syndrome with neonatal hemochromatosis phenotype, intractable diarrhea, and hair anomalies

Alain Verloès, Jacques Lombet, Yves Lambert et al. · American Journal of Medical Genetics · 1997 · 103 citations

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