✦ LIBER ✦

A single-base substitution in the proximal Sp1 binding site of the human LDL receptor promoter as a cause of familial hypercholesterolemia: a novel type of a mutation causing disordered lipoprotein metabolism

✍ Scribed by K.K. Kontula; U.-M. Koivisto; J.J. Palvimo; O.A. Ja¨nne

Book ID: 118325498
Publisher: Elsevier Science
Year: 1994
Tongue: English
Weight: 158 KB
Volume: 109
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(94)93827-x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A novel deletion/inversion mutation in t

A novel deletion/inversion mutation in the low-density lipoprotein receptor gene as a cause of heterozygous familial hypercholesterolemia

✍ Ulla-Maija Koivisto; Kimmo Kontula 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 896 KB

## Communicated fq L e n a Peltonen A combined deletiodinversion rearrangement of the LDL receptor gene was discovered in a Finnish patient with heterozygous familial hypercholesterolemia (FH). Sequence analysis of the mutated allele revealed an insertion of 4 nucleotides in exon 11, caused by a c

A novel mutation M-21V in exon 1 of the

A novel mutation M-21V in exon 1 of the low density lipoprotein receptor gene causing familial hypercholesterolemia

✍ P. Lombardi; J.C. Defesche; S.W.A. Kamerling; J.J.P. Kastelein; L.M. Havekes 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 159 KB

A novel point mutation in a splice accep

A novel point mutation in a splice acceptor site of intron 1 of the human low density lipoprotein receptor gene which causes severe hypercholesterolemia: An unexpected absence of exon skipping

✍ Takao Maruyama; Yasuko Miyake; Taku Yamamura; Shoji Tajima; Tohru Funahashi; Yuj 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 163 KB 👁 2 views

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