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GTR Home > Tests > Lethal Restrictive Dermopathy, ZMPSTE24-Related

Overview

Test name

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Lethal Restrictive Dermopathy, ZMPSTE24-Related

Purpose of the test

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Contribute to generalizable knowledge

Condition

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Methodology

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Molecular Genetics
SMutation scanning of the entire coding region
Bi-directional Sanger Sequence Analysis

Summary of what is tested

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Description of study

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Searching for mutations in ZMPSTE24 and studying genotype-phenotype relationships

Researchers

Person responsible for the studyHelpAbhimanyu Garg, MD, Lab Director
Study contactHelpAbhimanyu Garg, MD, Lab Director, abhimanyu.garg@utsouthwestern.edu, 214-648-2895 (phone), 214-648-0553 (fax)

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