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A Novel Deletion/Insertion Caused by a Replication Error in the β-Globin Gene Locus Control Region

✍ Scribed by Joly, Philippe; Lacan, Philippe; Garcia, Caroline; Meley, Roland; Pondarré, Corinne; Francina, Alain


Book ID
115493147
Publisher
Informa plc
Year
2011
Tongue
English
Weight
507 KB
Volume
35
Category
Article
ISSN
0363-0269

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A novel complex mutation with the presence of both deletion and insertion in very close proximity in the same region was detected in exon 8 of the LDL receptor gene from two apparently unrelated Japanese families with familial hypercholesterolemia (FH). In this mutant LDL receptor gene, the nine bas