SMN1 dosage analysis in spinal muscular atrophy from India Academic Article uri icon

Overview

MeSH Major

  • Cyclic AMP Response Element-Binding Protein
  • Gene Dosage
  • Muscular Atrophy, Spinal
  • Nerve Tissue Proteins
  • RNA-Binding Proteins

abstract

  • SMN1 copy number analysis is an important parameter for identification of couples at risk for having a child affected with SMA and reduces unwarranted prenatal diagnosis for SMA. The dosage analysis is also useful for the counseling of clinically suspected SMA with a negative diagnostic SMA test.

publication date

  • May 23, 2005

Research

keywords

  • Academic Article

Identity

Language

  • eng

PubMed Central ID

  • PMC1174872

Digital Object Identifier (DOI)

  • 10.1186/1471-2350-6-22

PubMed ID

  • 15910686

Additional Document Info

start page

  • 22

volume

  • 6