An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

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Standard

An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. / Jensen, L G; Jensen, H K; Nissen, H; Kristiansen, K; Faergeman, O; Bolund, L; Gregersen, N.

In: Human Mutation, Vol. 7, No. 1, 1996, p. 82-4.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Jensen, LG, Jensen, HK, Nissen, H, Kristiansen, K, Faergeman, O, Bolund, L & Gregersen, N 1996, 'An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants', Human Mutation, vol. 7, no. 1, pp. 82-4. https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

APA

Jensen, L. G., Jensen, H. K., Nissen, H., Kristiansen, K., Faergeman, O., Bolund, L., & Gregersen, N. (1996). An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. Human Mutation, 7(1), 82-4. https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

Vancouver

Jensen LG, Jensen HK, Nissen H, Kristiansen K, Faergeman O, Bolund L et al. An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. Human Mutation. 1996;7(1):82-4. https://doi.org/10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

Author

Jensen, L G ; Jensen, H K ; Nissen, H ; Kristiansen, K ; Faergeman, O ; Bolund, L ; Gregersen, N. / An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants. In: Human Mutation. 1996 ; Vol. 7, No. 1. pp. 82-4.

Bibtex

@article{b85ad1f00f9f11de8478000ea68e967b,
title = "An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants",
abstract = "No abstract.",
author = "Jensen, {L G} and Jensen, {H K} and H Nissen and K Kristiansen and O Faergeman and L Bolund and N Gregersen",
note = "Keywords: Alleles; Base Sequence; Heterozygote Detection; Humans; Hyperlipoproteinemia Type II; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic; RNA, Messenger; Receptors, LDL; Transcription, Genetic",
year = "1996",
doi = "10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O",
language = "English",
volume = "7",
pages = "82--4",
journal = "Human Mutation",
issn = "1059-7794",
publisher = "JohnWiley & Sons, Inc.",
number = "1",

}

RIS

TY - JOUR

T1 - An LDL receptor promoter mutation in a heterozygous FH patient with dramatically skewed ratio between the two allelic mRNA variants

AU - Jensen, L G

AU - Jensen, H K

AU - Nissen, H

AU - Kristiansen, K

AU - Faergeman, O

AU - Bolund, L

AU - Gregersen, N

N1 - Keywords: Alleles; Base Sequence; Heterozygote Detection; Humans; Hyperlipoproteinemia Type II; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Promoter Regions, Genetic; RNA, Messenger; Receptors, LDL; Transcription, Genetic

PY - 1996

Y1 - 1996

N2 - No abstract.

AB - No abstract.

U2 - 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

DO - 10.1002/(SICI)1098-1004(1996)7:1<82::AID-HUMU16>3.0.CO;2-O

M3 - Journal article

C2 - 8664911

VL - 7

SP - 82

EP - 84

JO - Human Mutation

JF - Human Mutation

SN - 1059-7794

IS - 1

ER -

ID: 11253625