home   genetic news   bioinformatics   biotechnology   literature   journals   ethics   positions   events   sitemap
 
  HUM-MOLGEN -> Genetic News | search  
 

A Germline Mutation in BLOC1S3/Reduced Pigmentation Causes a Novel Variant of Hermansky-Pudlak Syndrome (HPS8)

 
  December, 14 2005 10:42
your information resource in human molecular genetics
 
     
Hermansky-Pudlak syndrome (HPS) is genetically heterogeneous, and mutations in seven genes have been reported to cause HPS. Autozygosity mapping studies were undertaken in a large consanguineous family with HPS. Affected individuals displayed features of incomplete oculocutaneous albinism and platelet dysfunction. These findings, reported in the Jan 2006 issue of The American Journal of Human Genetics (Vol. 78, pp. 160-166), define a novel form of human HPS (HPS8) and extend genotype-phenotype correlations in HPS.

Author Contact:

Eamonn R. Maher
Section of Medical and Molecular Genetics

Abstract available online.

(C) The American Journal of Human Genetics.

Posted by: Tressie Dalaya


Message posted by: Trevor M. D'Souza

print this article mail this article
Latest News
Variants Associated with Pediatric Allergic Disorder

Mutations in PHF6 Found in T-Cell Leukemia

Genetic Risk Variant for Urinary Bladder Cancer

Antibody Has Therapeutic Effect on Mice with ALS

Regulating P53 Activity in Cancer Cells

Anti-RNA Therapy Counters Breast Cancer Spread

Mitochondrial DNA Diversity

The Power of RNA Sequencing

‘Pro-Ageing' Therapy for Cancer?

Niche Genetics Influence Leukaemia

Molecular Biology: Clinical Promise for RNA Interference

Chemoprevention Cocktail for Colon Cancer

more news ...

Generated by News Editor 2.0 by Kai Garlipp
WWW: Kai Garlipp, Frank S. Zollmann.
7.0 © 1995-2023 HUM-MOLGEN. All rights reserved. Liability, Copyright and Imprint.