Cellular and clinical report of new Griscelli syndrome type III cases

Pigment Cell and Melanoma Research

Volumn 25, Issue 1, 2012, Pages 47-56

  Westbroek, Wendy ^a   Klar, Aharon ^b   Cullinane, Andrew R ^a   Ziegler, Shira G ^a   Hurvitz, Haggit ^b   Ganem, Ashraf ^b   Wilson, Kirkland ^a   Dorward, Heidi ^a   Huizing, Marjan ^a   Tamimi, Haled ^b   Vainshtein, Igor ^b   Berkun, Yackov ^c   Lavie, Moran ^c   Gahl, William A ^a   Anikster, Yair ^c  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b HEBREW UNIVERSITY OF JERUSALEM   (Israel)

^c SHEBA MEDICAL CENTER   (Israel)

Author keywords

Griscelli syndrome type III; Melanocyte; Melanophilin; Melanosome; Myosin 5a; RAB27A; Tripartite complex

Indexed keywords

MELANOCYTE PROTEIN PMEL 17; MELANOPHILIN; MESSENGER RNA; PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DENDRITE; DOWN REGULATION; EXON; FEMALE; GENE MUTATION; GRISCELLI SYNDROME; GRISCELLI SYNDROME TYPE III; HAIR DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; MALE; MARFAN SYNDROME; MELANOCYTE; MELANOSOME; MISSENSE MUTATION; PATHOGENICITY; PEDIGREE ANALYSIS; PHENOTYPE; PNEUMONIA; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; UPREGULATION; WILD TYPE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARABS; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; FEMALE; HAIR COLOR; HUMANS; MALE; MELANOCYTES; MELANOSOMES; MUTATION, MISSENSE; PEDIGREE; PIEBALDISM; PIGMENTATION DISORDERS; POINT MUTATION; PROTEIN INTERACTION MAPPING; RAB GTP-BINDING PROTEINS; YOUNG ADULT;

EID: 83955164233     PISSN: 17551471     EISSN: 1755148X     Source Type: Journal    
DOI: 10.1111/j.1755-148X.2011.00901.x     Document Type: Article

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