Biochemistry, The Molecular Basis of Life, 6th Edition
Biochemistry, The Molecular Basis of Life, 6th Edition
6th Edition
ISBN: 9780190259204
Author: Trudy McKee, James R. McKee
Publisher: Oxford University Press
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Chapter 2, Problem 20RQ
Summary Introduction

To review:

Definition of the following terminologies:

(a) Ciliopathy

(b) Retinitis pigmentosum

(c) Polycystic kidney disease

(d) Bardet-Biedl syndrome

(e) Anterograde transport

Introduction:

When there are abnormalities present in the genome, it results in a genetic disorder. It has been observed that most genetic disorders are rare as, generally, only one person gets affected from it among thousands or millions of people.

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