Bookcover of Ocular Albinism Type 1
Booktitle:

Ocular Albinism Type 1

Betascript Publishing (2010-08-17 )

Books loader

Omni badge eligible for voucher
ISBN-13:

978-613-1-29873-8

ISBN-10:
6131298734
EAN:
9786131298738
Book language:
English
Blurb/Shorttext:
Please note that the content of this book primarily consists of articles available from Wikipedia or other free sources online. Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the most common type of Ocular Albinism with a prevalence rate of 1:50,000. It is an inheritable classical Mendelian type X-linked recessive disorder wherein the retinal pigment epithelium lacks pigment while hair and skin appear normal. Since it is an X-linked disorder, it occurs exclusively in males and females act as carriers. About 60 missense and nonsense mutations, insertions and deletions have been identified in Oa1. Mutations in OA1 have been linked to defective glycosylation and thus improper intracellular transportation.
Publishing house:
Betascript Publishing
Website:
https://www.betascript-publishing.com/
Edited by:
Lambert M. Surhone, Mariam T. Tennoe, Susan F. Henssonow
Number of pages:
116
Published on:
2010-08-17
Stock:
Available
Category:
Clinical disciplines
Price:
39.00 €
Keywords:
Ocular Albinism, Retinal Pigment Epithelium

Books loader

Newsletter

Adyen::amex Adyen::mc Adyen::visa Adyen::cup Adyen::unionpay Paypal Wire Transfer

  0 products in the shopping cart
Edit cart
Loading frontend
LOADING