Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

Nature Genetics

Volumn 16, Issue 3, 1997, Pages 289-292

  Pastural, E ^a   Barrat, F J ^a   Dufourcq Lagelouse, R ^a   Certain, S ^a   Sanal, O ^a   Jabado, N ^a   Seger, R ^a   Griscelli, C ^a   Fischer, A ^a   De Saint Basile, G ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MELANIN; MYOSIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 15Q; CONTROLLED STUDY; GENE MUTATION; GRISCELLI DISEASE; HUMAN; HUMAN TISSUE; INTRACELLULAR TRANSPORT; LYMPHOCYTE ACTIVATION; MACROPHAGE ACTIVATION; MELANOSOME; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SKIN PIGMENTATION;

ALBINISM; ANIMALS; CELLS, CULTURED; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DISEASE MODELS, ANIMAL; FEMALE; HAPLOTYPES; HUMANS; HYPERSENSITIVITY, DELAYED; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MICE; MICE, MUTANT STRAINS; MOLECULAR SEQUENCE DATA; MUTATION; MYOSINS; PEDIGREE; SEQUENCE ANALYSIS, DNA;

EID: 0030914460     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0797-289     Document Type: Article

References (26)