A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome

Molecular Genetics and Metabolism

Volumn 94, Issue 2, 2008, Pages 248-254

  Westbroek, Wendy ^a   Tuchman, Maya ^a   Tinloy, Bradford ^a   De Wever, Olivier ^b   Vilboux, Thierry ^a   Hertz, Jens M ^c   Hasle, Henrik ^c   Heilmann, Carsten ^d   Helip Wooley, Amanda ^a   Kleta, Robert ^a   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GHENT UNIVERSITY HOSPITAL   (Belgium)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

^d Rigshospitalet   (Denmark)

Author keywords

Griscelli syndrome; Melanophilin; Melanosome; Myosin Va; Rab27A; Switch I region

Indexed keywords

RAB27A PROTEIN;

AFGHANISTAN; ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; CONFOCAL MICROSCOPY; EPIDERMIS; FEMALE; GENE LOCATION; GRISCELLI SYNDROME; HUMAN; HUMAN TISSUE; IMMUNOPRECIPITATION; KERATINOCYTE; LASER MICROSCOPY; MALE; MELANOCYTE; MELANOSOME; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; SKIN BIOPSY; STEM CELL TRANSPLANTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; AFGHANISTAN; AMINO ACID MOTIFS; CELL NUCLEUS; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; MALE; MELANOCYTES; MELANOSOMES; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN BINDING; RAB GTP-BINDING PROTEINS; SEQUENCE ALIGNMENT; SYNDROME;

EID: 43249096663     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2008.02.009     Document Type: Article

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