SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndrome

American Journal of Human Genetics

Volumn 90, Issue 4, 2012, Pages 689-692

  Fabre, Alexandre ^a,b   Charroux, Bernard ^c   Martinez Vinson, Christine ^d   Roquelaure, Bertrand ^b   Odul, Egritas ^e   Sayar, Ersin ^f   Smith, Hilary ^g   Colomb, Virginie ^h   Andre, Nicolas ^b   Hugot, Jean Pierre ^d   Goulet, Olivier ^h   Lacoste, Caroline ^b   Sarles, Jacques ^b   Royet, Julien ^c   Levy, Nicolas ^a,b   Badens, Catherine ^a,b  

^a AIX MARSEILLE UNIVERSITY   (France)

^b TIMONE HOSPITAL   (France)

^c AIX MARSEILLE UNIVERSITÉ   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

^f AKDENIZ UNIVERSITY   (Turkey)

^g CHILDREN'S MEMORIAL HOSPITAL   (United States)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; MULTIPROTEIN COMPLEX; PROTEIN SKI3P; PROTEIN TTC37; RNA; UNCLASSIFIED DRUG;

ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; DIARRHEA; ENTEROPATHY; EXOSOME; GENE; GENE MUTATION; HAIR DISEASE; HUMAN; PRIORITY JOURNAL; SKIV2L GENE; SYNDROMIC DIARRHEA; TTC37 GENE;

CARRIER PROTEINS; DIARRHEA, INFANTILE; DNA HELICASES; HUMANS; INFANT; INFANT, NEWBORN; MUTATION; SYNDROME;

EID: 84859487192     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.02.009     Document Type: Article

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