✦ LIBER ✦

Alternative splicing of LDL-receptor mRNA in a patient with familial hypercholesterolemia due to a duplication of exons 16 and 17

✍ Scribed by S. Calandra; N. Lelli; R. Garuti; F. Zambelli

Book ID: 118324159
Publisher: Elsevier Science
Year: 1992
Tongue: English
Weight: 124 KB
Volume: 97
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(92)90146-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Duplication of exons 13, 14 and 15 of th

Duplication of exons 13, 14 and 15 of the LDL-receptor gene in a patient with heterozygous familial hypercholesterolemia

✍ N. Lelli; M. Ghisellini; S. Calandra; A. Gaddi; A. Ciarrocchi; D. A. Coviello; S 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 674 KB

During a survey of Italian patients with familial hypercholesterolemia (FH), we identified an FH heterozygous patient with a gross rearrangement of the low density lipoprotein (LDL) receptor gene. Southern blot analysis of the proband's DNA digested with restriction enzymes PvuII, BamHI, BglII and X

A family with attenuated familial adenom

A family with attenuated familial adenomatous polyposis due to a mutation in the alternatively spliced region of APC exon 9

✍ Joanne Young; Lisa A. Simms; Jabbar Tarish; Ron Buttenshaw; Ngaire Knight; Grego 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 196 KB 👁 2 views

A family is presented with attenuated familial adenomatous polyposis of variable phenotype. The clinical features range from sparse right-sided polyposis and cancer in the proximal colon at the age of 34 to pan-colonic polyposis and cancer at the age of 68. Rectal sparing is common to all affected m

Identification of the valine 408 to meth

Identification of the valine 408 to methionine mutation in the LDL receptor in a Greek patient with homozygous familial hypercholesterolemia

✍ H. Schuster; C. Manke; J. Fischer; C. Keller; G. Wolfram; N. Zöllnery 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 334 KB

An 87 bp deletion in exon 5 of the LDL r

An 87 bp deletion in exon 5 of the LDL receptor gene in a mother and her son with familial hypercholesterolemia

✍ Gregor Schlüter; Ursula Wick 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 406 KB

1.P.258 Mutation screening in patients w

1.P.258 Mutation screening in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay

✍ H. Nissen; S. Lestavel; T.S. Hansen; G. Luc; E. Bruckert; V. Clavey 📂 Article 📅 1997 🏛 Elsevier Science 🌐 English ⚖ 195 KB

Repetitive sequences involved in the rec

Repetitive sequences involved in the recombination leading to deletion of exon 5 of the low-density-lipoprotein receptor gene in a patient with familial hypercholesterolemia

✍ Niels S. RÜDIGER; Peter S. HANSEN; Margrethe JØRGENSEN; Ole FAERGEMAN; Lars BOLU 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 444 KB