(Q43136172)

14 November 2017

title

Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia (English)

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14 November 2017

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1

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14 November 2017

Waqas Ahmed

2

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14 November 2017

Ahmed Sadeque

3

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14 November 2017

Syeda Hafiza Benish Ali

4

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14 November 2017

Syed Habib Bokhari

5

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14 November 2017

Nuzhat Ahmed

6

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14 November 2017

Raheel Qamar

7

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14 November 2017

publication date

10 March 2010

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Molecular Biology Reports

14 November 2017

published in

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14 November 2017

volume

37

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14 November 2017

issue

8

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14 November 2017

page(s)

3869-3875

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The molecular basis of familial hypercholesterolemia in The Netherlands

14 November 2017

cites work

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12 December 2020

LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance

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12 December 2020

Plasma homocysteine and DNA damage profiles in normal and obese subjects in the Pakistani population

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12 December 2020

A receptor-mediated pathway for cholesterol homeostasis

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12 December 2020

The adaptor protein Dab2 sorts LDL receptors into coated pits independently of AP-2 and ARH

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12 December 2020

Receptor-mediated endocytosis: concepts emerging from the LDL receptor system

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12 December 2020

A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.

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12 December 2020

Mechanisms for cellular cholesterol transport: defects and human disease

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12 December 2020

The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein

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12 December 2020

The modular adaptor protein autosomal recessive hypercholesterolemia (ARH) promotes low density lipoprotein receptor clustering into clathrin-coated pits

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12 December 2020

Familial hypercholesterolaemia in Portugal.

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12 December 2020

Maternal hypercholesterolemia leads to activation of endogenous cholesterol synthesis in the offspring

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12 December 2020

Functional analysis of sites within PCSK9 responsible for hypercholesterolemia

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12 December 2020

Genetic polymorphism c.1438A>G of the 5-HT(2A) receptor is associated with abdominal obesity in Chinese Northern Han population

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12 December 2020

Familial hypercholesterolemia in Utah kindred with novel 2412-6 Ins G mutations in exon 17 of the LDL receptor gene.

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12 December 2020

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population

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12 December 2020

Structural requirements for PCSK9-mediated degradation of the low-density lipoprotein receptor

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12 December 2020

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

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12 December 2020

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review

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12 December 2020

Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

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12 December 2020

Sorting motifs in the intracellular domain of the low density lipoprotein receptor interact with a novel domain of sorting nexin-17.

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12 December 2020

Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia

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12 December 2020

NPXY, a sequence often found in cytoplasmic tails, is required for coated pit-mediated internalization of the low density lipoprotein receptor

1 reference

12 December 2020

A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia

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12 December 2020

The LDL receptor clustering motif interacts with the clathrin terminal domain in a reverse turn conformation

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12 December 2020

Sterol regulatory element-binding transcription factor (SREBF)-2, SREBF cleavage-activating protein (SCAP), and premature coronary artery disease in a Chinese population.

1 reference

12 December 2020

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population

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12 December 2020

Homozygous familial hypercholesterolaemia presenting with cutaneous xanthomas: response to liver transplantation

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12 December 2020

Mutations in the low-density lipoprotein receptor gene in Swedish familial hypercholesterolaemia patients: clinical expression and treatment response

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12 December 2020

Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics

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12 December 2020

The adaptor protein beta-arrestin2 enhances endocytosis of the low density lipoprotein receptor

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12 December 2020

Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome

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12 December 2020

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database

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12 December 2020

The Low-Density Lipoprotein Pathway and its Relation to Atherosclerosis

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12 December 2020

The low density lipoprotein receptor. Identification of amino acids in cytoplasmic domain required for rapid endocytosis

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12 December 2020

Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients.

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12 December 2020

10.1007/S11033-010-0043-0

Identifiers

DOI

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14 November 2017

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