Characterization of the Retinoic Acid Induced 1 Gene in Humans and Mice

Characterization of the Retinoic Acid Induced 1 Gene in Humans and Mice

The retinoic acid induced 1 (RAI1) gene maps within the Smith-Magenis syndrome (SMS) region on chromosome 17p11.2. Interstitial deletion of 17p11.2 including RAI1 or mutation of RAI1 results in SMS, while duplication of 17p11.2, including RAI1, results in the dup(17)(p11.2) syndrome. Smith-Magenis...

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Bibliographic Details
Main Author: Girirajan, Santhosh
Format: Others
Published: VCU Scholars Compass 2008
Subjects:
dosage-sensitivity
dup(17)(p11.2) syndrome
SMS
RAI1/Rai1
SHIRPA
functional observational battery
Medical Genetics
Medical Sciences
Medicine and Health Sciences
Online Access:http://scholarscompass.vcu.edu/etd_retro/17
http://scholarscompass.vcu.edu/cgi/viewcontent.cgi?article=1016&context=etd_retro

Internet

http://scholarscompass.vcu.edu/etd_retro/17
http://scholarscompass.vcu.edu/cgi/viewcontent.cgi?article=1016&context=etd_retro

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