✦ LIBER ✦

Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia

✍ Scribed by Philippa Talmud; Anne Tybjærg-Hansen; Deepak Bhatnagar; Anthony Mbewu; J.Paul Miller; Paul Durrington; Steve Humphries

Book ID: 118896527
Publisher: Elsevier Science
Year: 1991
Tongue: English
Weight: 416 KB
Volume: 89
Category: Article
ISSN: 0021-9150
DOI: 10.1016/0021-9150(91)90053-6

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Rapid testing for three mutations causin

Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia

✍ Philippa J. Talmud; Owen J. Tamplin; Karen Heath; Dairiena Gaffney; Ian N.M. Day 📂 Article 📅 1996 🏛 Elsevier Science 🌐 English ⚖ 259 KB

Familial Combined Hyperlipidaemia is Com

Familial Combined Hyperlipidaemia is Common Among Patients with a Presumptive Clinical Diagnosis of Famililal Hypercholesterolaemia: Implications for Cascade Screening Programs

✍ P. Suganthan; D. Bell; T. Bates; A. Juniper; J. Burnett; F. van Bockxmeer; L. So 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 180 KB

Screening for a prevalent LDL receptor m

Screening for a prevalent LDL receptor mutation in patients with severe hypercholesterolaemia

✍ Markku J. Savolainen; Taina Korhonen; Katriina Aalto-Setälä; Kimmo Kontula; Y. A 📂 Article 📅 1991 🏛 Springer 🌐 English ⚖ 461 KB

A rapid new method for the diagnosis of familial hypercholesterolaemia (FH) detects the deletion extending from intron 15 to exon 18 in the low density lipoprotein (LDL) receptor gene, i.e. the FH-Helsinki mutation responsible for a major portion of FH in Finland. Amplification of the DNA sequences

YI-800 FUNCTIONAL CHARACTERIZATION OF PO

YI-800 FUNCTIONAL CHARACTERIZATION OF POINT MUTATIONS IN THE LDLR GENE FOUND IN PORTUGUESE PATIENTS WITH CLINICAL DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLAEMIA

✍ Silva, S.; Patel, D.; Bourbon, M.; Soutar, A.K. 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 68 KB

Mutational analysis in UK patients with

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing

✍ Steve E. Humphries; Treena Cranston; Marcus Allen; Helen Middleton-Price; Maryam 📂 Article 📅 2005 🏛 Springer 🌐 English ⚖ 219 KB

Mutations in theMEFV gene in a large ser

Mutations in theMEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever

✍ Dod�, C.; P�cheux, C.; Cazeneuve, C.; Cattan, D.; Dervichian, M.; Goossens, M.; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Familial Mediterranean fever (FMF) is an autosomal recessively inherited disease affecting patients of the Mediterranean basin. FMF is characterized by recurrent episodes of fever accompanied with topical signs of inflammation. Some patients can develop a renal amyloidosis associated (AA) amyloidosi