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1.P.236 A founder-related LDL receptor gene mutation in the Liguria region of Italy

โœ Scribed by S. De Mattei; M. Rolleri; P. Masturzo; V. Fascetti; N. Elicio; C. Motti; C. Cortese; S. Calandra; S. Bertolini


Book ID
119437283
Publisher
Elsevier Science
Year
1997
Tongue
English
Weight
188 KB
Volume
134
Category
Article
ISSN
0021-9150

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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