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Article

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5A

1 Aug 2002

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 12058346
DOI: 10.1086/341606

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Evidence that Griscelli Syndrome with Neurological Involvement Is Caused by Mutations in RAB27A, Not MYO5APMID 12058346Read ↗

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A.Semantic proximity Read ↗

Mutation analysis and prenatal diagnosis of a family with Griscelli syndrome type 2: two novel mutations in the RAB27A gene.Semantic proximity Read ↗

Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.Semantic proximity Read ↗

Griscelli syndrome type 3-like phenotype with MYO-5A exon-F deletion.Semantic proximity Read ↗

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult-Onset in a 46-Year-Old Male.Semantic proximity Read ↗

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.Semantic proximity Read ↗

Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.Semantic proximity Read ↗

Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.Semantic proximity Read ↗

Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.Semantic proximity Read ↗

Griscelli syndrome without hemophagocytosis in an eleven-year-old girl: expanding the phenotypic spectrum of Rab27A mutations in humans.Semantic proximity Read ↗

A novel RAB27A mutation in a patient with Griscelli syndrome type 2.Semantic proximity Read ↗

Molecular analysis and clinical findings of Griscelli syndrome patients.Semantic proximity Read ↗

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