Publications:

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Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

CC Huang, MJ Charng

Publication Date: 2020

Variant appearance in text: LDLR: 268G>A; D90N

PubMed Link: 32793292

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variations in familial hypercholesterolemia and cascade screening in East Asians.

Molecular Genetics & Genomic Medicine

ML Chan, CL Cheung, AC Lee, CY Yeung, CW Siu, JY Leung, HK Pang, KC Tan

Publication Date: 2019-02

Variant appearance in text: LDLR: 268G>A

PubMed Link: 30592178

Variant Present in the following documents:

• Main text

View BVdb publication page

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Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.

International Journal Of Molecular Sciences

A Benito-Vicente, KB Uribe, S Jebari, U Galicia-Garcia, H Ostolaza, C Martin

Publication Date: 2018-06-05

Variant appearance in text: LDLR: 268G>A; Asp90Asn

PubMed Link: 29874871

Variant Present in the following documents:

• Main text

View BVdb publication page

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The distribution and characteristics of LDL receptor mutations in China: A systematic review.

Scientific Reports

L Jiang, LY Sun, YF Dai, SW Yang, F Zhang, LY Wang

Publication Date: 2015-11-26

Variant appearance in text: LDLR: 268G>A

PubMed Link: 26608663

Variant Present in the following documents:

• Main text
• srep17272-s1.doc

View BVdb publication page

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Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing.

Plos One

SM Han, B Hwang, TG Park, DI Kim, MY Rhee, BK Lee, YK Ahn, BR Cho, J Woo, SH Hur, JO Jeong, S Park, Y Jang, MG Lee, D Bang, JH Lee, SH Lee

Publication Date: 2015

Variant appearance in text: LDLR: 268G>A; D90N

PubMed Link: 25962062

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics

PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman

Publication Date: 2014-06-23

Variant appearance in text: LDLR: 268G>A; Asp90Asn

PubMed Link: 24956927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

Clinical Genetics

K Lee, S Khan, A Islam, M Ansar, PB Andrade, S Kim, RL Santos-Cortez, W Ahmad, SM Leal

Publication Date: 2012-07

Variant appearance in text: LDLR: 268G>A

PubMed Link: 21534946

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.523G>A	p.Asp175Asn	missense_variant	3/18	-
ENST00000455727.2	c.268G>A	p.Asp90Asn	missense_variant	3/16	-
ENST00000535915.1	c.190+2396G>A	-	intron_variant	-	2/16
ENST00000545707.1	c.268G>A	p.Asp90Asn	missense_variant	3/16	-
ENST00000557933.1	c.268G>A	p.Asp90Asn	missense_variant	3/18	-
ENST00000557958.1	n.354G>A	-	non_coding_transcript_exon_variant	3/3	-
ENST00000558013.1	c.268G>A	p.Asp90Asn	missense_variant	3/18	-
ENST00000558518.1	c.268G>A	p.Asp90Asn	missense_variant	3/18	-
NM_000527.5	c.268G>A	p.Asp90Asn	missense_variant	3/18	-
NM_001195798.2	c.268G>A	p.Asp90Asn	missense_variant	3/18	-
NM_001195799.2	c.190+2396G>A	-	intron_variant	-	2/16
NM_001195800.2	c.268G>A	p.Asp90Asn	missense_variant	3/16	-
NM_001195803.2	c.268G>A	p.Asp90Asn	missense_variant	3/16	-