MLPHbase: Griscelli syndrome, type 3 (GS3)

Version 1.0 last updated 18 June, 2007 contains 1 public entries


Curated:	Mauno Vihinen
Maintained by:	Jouni Väliaho
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Short description of the MLPHbase :

Defects in MLPH are a cause of Griscelli syndrome type 3. GS3 is a rare autosomal recessive disorder characterized by pigmentary dilution of the skin and hair, the presence of large clumps of pigment in hair shafts, and an accumulation of melanosomes in melanocytes, without other clinical manifestations.

Other IBT bioinformatics services:
Immunodeficiency Resource (IDR)
Immunodeficiency Mutation Databases (MUTbase)
IDdiagnostics
Immunome Knowledge Base (IKB) - An integrated service for immunome research
SH2base - Database for pathogenic SH2 domain mutations

IDbases are linked to University of California Santa Cruz (UCSC) genome browser: MLPHbase