Hereditary Retinopathies : Progress in Development of Genetic and Molecular Therapies. 1st ed. 2012

種類:

電子ブック

責任表示:

by Pete Humphries, Marian M. Humphries, Lawrence C. S. Tam, G. Jane Farrar, Paul F. Kenna, Matthew Campbell, Anna-Sophia Kiang

出版情報:

New York, NY : Springer New York : Imprint: Springer, 2012

著者名:

Humphries, Pete.

Humphries, Marian M.

Tam, Lawrence C. S.

Farrar, G. Jane.

Kenna, Paul F.

Campbell, Matthew.

Kiang, Anna-Sophia.

SpringerLink (Online service)

続きを見る

シリーズ名:

SpringerBriefs in Genetics ; 1

ISBN:

9781461444992 [1461444993]    

注記:

Preface -- Introduction -- Gene-based Medicines directly targeting genetic defects and molecular pathologies common to multiple forms of disease -- Molecular Medicines.
The hereditary retinopathy, retinitis pigmentosa (RP), which affects 1 in 3,500 people worldwide, is the most common cause of registered visual handicap among those of the working age in developed countries. RP is a highly variable disorder where patients may develop symptomatic visual loss in early childhood, while others may remain asymptomatic until mid-adulthood. Most cases of RP segregate in autosomal dominant, recessive or X-linked recessive modes, with approximately 41 genes being implicated in disease pathology to date (RetNet). The extensive genetic heterogeneity associated with autosomal dominant RP (adRP) is an undisputed hindrance to the development of genetically based therapeutics.

ローカル注記:

学内専用E-BOOKS (local access only)