CFTR Mutation Detection by Multiplex Heteroduplex (mHET) Analysis on MDE Gel View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2002-03-04

AUTHORS

William R. Skach , Julian Zielenski , Isabel Aznarez , Tuncer Onay , John Tzounzouris , Danuta Markiewicz , Lap-Chee Tsui

ABSTRACT

Mutation detection in an integral part of disease diagnosis and patient study. For most Mendelian diseases, multiple mutations may be found in a single gene among a patient population. The type of mutations may vary from large deletions to single-base-pair (bp) substitutions, and different diseases may have different predominant types. For example, large deletions are often found in Duchenne muscular dystrophy (1) and truncation mutation is the predominant type in BRCA1-associated breast cancer (2). Therefore, different mutation detection strategies are required for different diseases. More... »

PAGES

03-20

Book

TITLE

Cystic Fibrosis Methods and Protocols

ISBN

1-59259-187-6

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1385/1-59259-187-6:03

DOI

http://dx.doi.org/10.1385/1-59259-187-6:03

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1011039076


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