Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

Human mutation

Volumn 30, Issue 2, 2009, Pages

  Cullinane, Andrew R ^a   Straatman Iwanowska, Anna ^a   Seo, Jeong K ^a   Ko, Jae S ^a   Song, Kyung S ^a   Gizewska, Maria ^a   Gruszfeld, Dariusz ^a   Gliwicz, Dorota ^a   Tuysuz, Beyhan ^a   Erdemir, Gulin ^a   Sougrat, Rachid ^a   Wakabayashi, Yoshiyuki ^a   Hinds, Rupert ^a   Barnicoat, Angela ^a   Mandel, Hanna ^a   Chitayat, David ^a   Fischler, Björn ^a   Garcia Cazorla, Angels ^a   Knisely, A S ^a   Kelly, Deirdre A ^a   Maher, Eamonn R ^a   Gissen, Paul ^a   more..

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

VESICULAR TRANSPORT PROTEIN; VPS33B PROTEIN, HUMAN;

ARTHROGRYPOSIS; ARTICLE; CASE REPORT; CHOLESTASIS; ETHNOLOGY; FIBROBLAST; GENETICS; HUMAN; INFANT; KIDNEY DISEASE; MALE; METABOLISM; MUTATION; PRESCHOOL CHILD; SYNDROME; ULTRASTRUCTURE;

ARTHROGRYPOSIS; CHILD, PRESCHOOL; CHOLESTASIS; FIBROBLASTS; HUMANS; INFANT; KIDNEY DISEASES; MALE; MUTATION; SYNDROME; VESICULAR TRANSPORT PROTEINS;

EID: 64049109733     PISSN: None     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.20900     Document Type: Article

References (0)