The genetic spectrum of familial hypercholesterolemia in Pakistan

about

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.

P2860

Q36671101-36B74456-103A-4964-8E1C-19CB7362419F

P2860

The genetic spectrum of familial hypercholesterolemia in Pakistan

Item

http://www.wikidata.org/entity/Q36983501

description

2013 nî lūn-bûn

@nan

2013年の論文

@ja

2013年論文

@yue

2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

@zh-mo

2013年論文

@zh-tw

2013年论文

@wuu

2013年论文

@zh

2013年论文

@zh-cn

name

The genetic spectrum of familial hypercholesterolemia in Pakistan

@en

type

Item

label

The genetic spectrum of familial hypercholesterolemia in Pakistan

@en

prefLabel

The genetic spectrum of familial hypercholesterolemia in Pakistan

@en

P1476

The genetic spectrum of familial hypercholesterolemia in Pakistan

@en

P2093

Ahmed Sadeque

http://www.w3.org/2001/XMLSchema#string

Humaira Ayub

http://www.w3.org/2001/XMLSchema#string

Moeen Riaz

http://www.w3.org/2001/XMLSchema#string

Raheel Qamar

http://www.w3.org/2001/XMLSchema#string

Ros Whittall

http://www.w3.org/2001/XMLSchema#string

Waqas Ahmed

http://www.w3.org/2001/XMLSchema#string

P2860

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

Reductions in all-cause, cancer, and coronary mortality in statin-treated patients with heterozygous familial hypercholesterolaemia: a prospective registry study

A method and server for predicting damaging missense mutations

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Novel and recurrent LDLR gene mutations in Pakistani hypercholesterolemia patients.

NARC-1/PCSK9 and its natural mutants: zymogen cleavage and effects on the low density lipoprotein (LDL) receptor and LDL cholesterol.

Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response.

Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes

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

P304

219-225

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1016/J.CCA.2013.03.017

http://www.w3.org/2001/XMLSchema#string

P478

421

http://www.w3.org/2001/XMLSchema#string

P50

Muhammad Ajmal

Stephen E Humphries

P577

2013-03-25T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

236086983

http://www.w3.org/2001/XMLSchema#string

P698

23535506

http://www.w3.org/2001/XMLSchema#string

P921

hypercholesterolemia

Pakistan

P932

3701840

http://www.w3.org/2001/XMLSchema#string

The genetic spectrum of familial hypercholesterolemia in Pakistan

about

P2860

P2860

The genetic spectrum of familial hypercholesterolemia in Pakistan

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698

P921

P932