Alstrom syndrome (OMIM 203800): A case report and literature review Review uri icon

Overview

MeSH Major

  • Blindness
  • Diabetes Mellitus, Type 2
  • Hyperlipoproteinemia Type IV
  • Mutation
  • Polymorphism, Single Nucleotide
  • Proteins

abstract

  • Two novel mutations in the ALMS1 gene causative for AS have been reported here, thereby increasing the number of reported mutations to 81 and providing a wider basis for mutational screening among affected individuals.

publication date

  • December 2007

Research

keywords

  • Review

Identity

Language

  • eng

PubMed Central ID

  • PMC2266715

Digital Object Identifier (DOI)

  • 10.1186/1750-1172-2-49

PubMed ID

  • 18154657

Additional Document Info

start page

  • 49

volume

  • 2

number

  • 1