Synapse
⌘+K
Synapse
PulseExploreClubsResearchersJournals
Instagram
HomeClubsExplore
August 1, 1989Journal of Clinical InvestigationOpen Access

Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype.

View Full Paper
Ask AI
Bookmark
Share

Authors

KAKatriina Aalto‐SetäläElectrophysiologyEHEero HelveRush University Medical CenterPKPetri T. KovanenPreventive Cardiology

Discussion

Loading...

Member takes

Implication

Key Points

Key points are not available for this paper at this time.

Cite This Study

Aalto‐Setälä et al. (1989) studied this question.

synapsesocial.com/papers/6a9b1ca9842ff96048ec77b3https://doi.org/10.1172/jci114192
View Full Paper
Ask AI
Bookmark
Share

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. A possible mechanism for the defect in a patient with familial hypercholesterolaemia1987 · 74 citations
  2. 2Mutation in LDL Receptor: Alu-Alu Recombination Deletes Exons Encoding Transmembrane and Cytoplasmic Domains1985 · 467 citations
  3. 3THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM1955 · 8,814 citations
  4. 4Purification of Mouse Immunoglobulin Heavy‐Chain Messenger RNAs from Total Myeloma Tumor RNA1980 · 2,689 citations
  5. 5Identification of a deletion in the LDL receptor gene A Finnish type of mutation1988 · 43 citations