(Q44069013)

29 November 2017

title

Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial hypobetalipoproteinemia (English)

1 reference

29 November 2017

Pin Yue

1

1 reference

29 November 2017

Bo Yuan

2

1 reference

29 November 2017

Daniela S Gerhard

3

1 reference

29 November 2017

Rosalind J Neuman

4

1 reference

29 November 2017

William L Isley

5

1 reference

29 November 2017

William S Harris

6

1 reference

29 November 2017

Gustav Schonfeld

7

1 reference

29 November 2017

language of work or name

1 reference

1 August 2002

1 reference

29 November 2017

1 reference

29 November 2017

volume

20

1 reference

29 November 2017

issue

2

1 reference

29 November 2017

page(s)

110-116

1 reference

Identification of the principal proteoglycan-binding site in LDL. A single-point mutation in apo-B100 severely affects proteoglycan interaction without affecting LDL receptor binding

29 November 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Comprehensive human genetic maps: individual and sex-specific variation in recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Truncated apo B-70.5-containing lipoproteins bind to megalin but not the LDL receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Truncated variants of apolipoprotein B cause hypobetalipoproteinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Carboxyl-terminal truncation of apolipoprotein B results in gradual loss of the ability to form buoyant lipoproteins in cultured human and rat liver cell lines

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

A cholesterol-lowering gene maps to chromosome 13q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Apolipoprotein B-32: a new truncated mutant of human apolipoprotein B capable of forming particles in the low density lipoprotein range

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

A truncated species of apolipoprotein B (B-38.7) in a patient with homozygous hypobetalipoproteinemia associated with diabetes mellitus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

The hypobetalipoproteinemias

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Familial hypobetalipoproteinemia caused by a mutation in the apolipoprotein B gene that results in a truncated species of apolipoprotein B (B-31). A unique mutation that helps to define the portion of the apolipoprotein B molecule required for the f

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Linkage of a gene for familial hypobetalipoproteinemia to chromosome 3p21.1-22.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Frequency of ApoB and ApoE Gene Mutations as Causes of Hypobetalipoproteinemia in the Framingham Offspring Population

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

Prevalence of familial hyper- and hypolipoproteinemias: the Princeton School District Family Study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

7 January 2021

Donor splice mutation (665 + 1 G_T) in familial hypobetalipoproteinemia with no detectable apoB truncation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

7 January 2021

Decreased production and increased catabolism of apolipoprotein B-100 in apolipoprotein B-67/B-100 heterozygotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

7 January 2021

Organ loci of catabolism of short truncations of apoB

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10101

7 January 2021

Identifiers

DOI

10.1002/HUMU.10101

1 reference

29 November 2017

1 reference