-
Something wrong with this record ?
A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene
H. Vaverkova, L. Tichy, D. Karasek, T. Freiberger,
Language English Country United States
Document type Case Reports, Journal Article, Research Support, Non-U.S. Gov't
Grant support
NV16-29084A
MZ0
CEP Register
- MeSH
- Adaptor Proteins, Signal Transducing genetics MeSH
- Adult MeSH
- Genetic Variation * MeSH
- Heterozygote MeSH
- Hypercholesterolemia genetics MeSH
- Middle Aged MeSH
- Humans MeSH
- Pedigree MeSH
- Aged MeSH
- Check Tag
- Adult MeSH
- Middle Aged MeSH
- Humans MeSH
- Male MeSH
- Aged MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
- Case Reports MeSH
- Research Support, Non-U.S. Gov't MeSH
We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
Central European Institute of Technology and Medical Faculty Masaryk University Brno Czech Republic
Centre for Cardiovascular Surgery and Transplantation Brno Czech Republic
References provided by Crossref.org
- 000
- 00000naa a2200000 a 4500
- 001
- bmc20022947
- 003
- CZ-PrNML
- 005
- 20201214125018.0
- 007
- ta
- 008
- 201125s2019 xxu f 000 0|eng||
- 009
- AR
- 024 7_
- $a 10.1016/j.jacl.2019.02.003 $2 doi
- 035 __
- $a (PubMed)30876877
- 040 __
- $a ABA008 $b cze $d ABA008 $e AACR2
- 041 0_
- $a eng
- 044 __
- $a xxu
- 100 1_
- $a Vaverkova, Helena $u Third Department of Internal Medicine - NRE, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic. Electronic address: helena.vaverkova@fnol.cz.
- 245 12
- $a A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene / $c H. Vaverkova, L. Tichy, D. Karasek, T. Freiberger,
- 520 9_
- $a We report a new variant in the LDLRAP1 gene associated with autosomal recessive hypercholesterolemia in a woman of central European ancestry.
- 650 _2
- $a adaptorové proteiny signální transdukční $x genetika $7 D048868
- 650 _2
- $a dospělí $7 D000328
- 650 _2
- $a senioři $7 D000368
- 650 _2
- $a ženské pohlaví $7 D005260
- 650 12
- $a genetická variace $7 D014644
- 650 _2
- $a heterozygot $7 D006579
- 650 _2
- $a lidé $7 D006801
- 650 _2
- $a hypercholesterolemie $x genetika $7 D006937
- 650 _2
- $a mužské pohlaví $7 D008297
- 650 _2
- $a lidé středního věku $7 D008875
- 650 _2
- $a rodokmen $7 D010375
- 655 _2
- $a kazuistiky $7 D002363
- 655 _2
- $a časopisecké články $7 D016428
- 655 _2
- $a práce podpořená grantem $7 D013485
- 700 1_
- $a Tichy, Lukas $u Department of Internal Medicine, Hematology and Oncology, Centre of Molecular Biology and Therapy, University Hospital Brno, Brno, Czech Republic.
- 700 1_
- $a Karasek, David $u Third Department of Internal Medicine - NRE, Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic.
- 700 1_
- $a Freiberger, Tomas $u Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic; Central European Institute of Technology and Medical Faculty, Masaryk University, Brno, Czech Republic.
- 773 0_
- $w MED00166943 $t Journal of clinical lipidology $x 1933-2874 $g Roč. 13, č. 3 (2019), s. 405-410
- 856 41
- $u https://pubmed.ncbi.nlm.nih.gov/30876877 $y Pubmed
- 910 __
- $a ABA008 $b sig $c sign $y a $z 0
- 990 __
- $a 20201125 $b ABA008
- 991 __
- $a 20201214125018 $b ABA008
- 999 __
- $a ok $b bmc $g 1595266 $s 1113623
- BAS __
- $a 3
- BAS __
- $a PreBMC
- BMC __
- $a 2019 $b 13 $c 3 $d 405-410 $e 20190216 $i 1933-2874 $m Journal of clinical lipidology $n J. clin. lipidol. $x MED00166943
- GRA __
- $a NV16-29084A $p MZ0
- LZP __
- $a Pubmed-20201125
