Ocular Albinism Type 1的封面
书籍主题:

Ocular Albinism Type 1

Betascript Publishing (2010-08-17 )

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ISBN-13:

978-613-1-29873-8

ISBN-10:
6131298734
EAN:
9786131298738
书籍语言:
英文
作品简介:
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.
出版社 :
Betascript Publishing
网址:
https://www.betascript-publishing.com/
出版发行由:
Lambert M. Surhone, Mariam T. Tennoe, Susan F. Henssonow
页码 :
116
发表日期:
2010-08-17
现货:
备有现货
类别:
临床学科
价格:
39.00 €
关键词:
Ocular Albinism, Retinal Pigment Epithelium

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