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Erratum: A novel splice site mutation (3157+1G>T) in the dystrophin gene causing total exon skipping and DMD phenotype

✍ Scribed by M. Sironi; S. Corti; F. Locatelli; R. Cagliani; G.P. Comi

Publisher: John Wiley and Sons
Year: 2001
Tongue: English
Weight: 10 KB
Volume: 18
Category: Article
ISSN: 1059-7794
DOI: 10.1002/humu.1244

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✦ Synopsis

A novel splice site mutation (3157+1G>T)

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Familial hypercholesterolemia (FH) is a genetic disorder caused by mutations in the low density lipoprotein (LDL)-receptor gene. We found a new mutation in the splice acceptor site of intron 1 of the LDL receptor gene, which is designated as 68-1 G->C according to the nomenclature suggested by , in