Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2

Molecular Genetics and Metabolism

Volumn 101, Issue 1, 2010, Pages 62-65

  Vincent, Lisa M ^a   Gilbert, Fred ^b   DiPace, Jennifer I ^b   Ciccone, Carla ^a   Markello, Thomas C ^a   Jeong, Andrew ^a   Dorward, Heidi ^a   Westbroek, Wendy ^a   Gahl, William A ^a,c   Bussel, James B ^b   Huizing, Marjan ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b WEILL CORNELL MEDICAL CENTER   (United States)

^c Office of the Director   (United States)

Author keywords

GTPase; Hypopigmentation; Immunodeficiency; Lytic granule; Melanosome; SNP array

Indexed keywords

RAB27A PROTEIN;

ANAMNESIS; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15Q; CONTROLLED STUDY; DISEASE SEVERITY; DNA DETERMINATION; ERYTHROPHAGOCYTOSIS; EXON; FEMALE; GENE DELETION; GENETIC SCREENING; GENOME ANALYSIS; GRISCELLI SYNDROME; GRISCELLI SYNDROME TYPE 2; HAIR DISCOLORATION; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; LIVER DYSFUNCTION; NEUROLOGIC DISEASE; NUCLEOTIDE SEQUENCE; NYSTAGMUS; PIEBALDISM; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 77955661718     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.05.015     Document Type: Article

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