BLMbase: Bloom syndrome

Version 2.1 last updated 6 August, 2007 contains 143 public entries


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

Defects in BLM are the cause of Bloom syndrome, an autosomal recessive disorder characterized by proportionate pre- and postnatal growth deficiency; sun-sensitive, telangiectatic, hypo- and hyperpigmented skin; predisposition to malignancy; and chromosomal instability.

Other IMT 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: BLMbase