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Deletion of theChd6exon 12 affects motor coordination

✍ Scribed by Melissa J. Lathrop; Lisa Chakrabarti; Jeremiah Eng; C. Harker Rhodes; Thomas Lutz; Amelia Nieto; H. Denny Liggitt; Sandra Warner; Jennifer Fields; Reinhard Stöger; Steven Fiering


Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
567 KB
Volume
21
Category
Article
ISSN
0938-8990

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A 12-bp deletion in the 5'-flanking regi
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We identified a novel 12-bp deletion NT\_033927.7: g.5495364\_5495375del in the 5'-flanking region of the SERPINH1 gene that increases promoter activity. The 12-bp deletion is in linkage disequilibrium with the minor "T" allele of the -656 C/T SNP (NT\_033927.7(SERPINH1):g.5495402C>T) that reduces p