Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum (Q28118435)

6

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author name string

O. Le Saux

1

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4 January 2017

C. Tschuch

3

1 reference

4 January 2017

K. Csiszar

4

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4 January 2017

B. Bacchelli

5

1 reference

4 January 2017

I. Pasquali-Ronchetti

7

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4 January 2017

F. M. Pope

8

1 reference

4 January 2017

A. Richards

9

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4 January 2017

S. Terry

10

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4 January 2017

L. Bercovitch

11

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4 January 2017

A. de Paepe

12

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4 January 2017

C. D. Boyd

13

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4 January 2017

language of work or name

English

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publication date

1 June 2000

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4 January 2017

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4 January 2017

25

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4 January 2017

2

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4 January 2017

223–227

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4 January 2017

Pseudoxanthoma elasticum

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7 January 2021

Brief report: occult pseudoxanthoma elasticum in patients with premature cardiovascular disease

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7 January 2021

Pseudoxanthoma elasticum and its complications: two case reports

1 reference

7 January 2021

A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1

1 reference

7 January 2021

Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.

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7 January 2021

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

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7 January 2021

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

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7 January 2021

ABC Transporters: From Microorganisms to Man

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7 January 2021

Snapback SSCP analysis: engineered conformation changes for the rapid typing of known mutations

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7 January 2021

MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver

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7 January 2021

An inventory of the human ABC proteins

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7 January 2021

Periumbilical pseudoxanthoma elasticum associated with chronic renal failure and angioid streaks--apparent regression with hemodialysis

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7 January 2021

Calciphylaxis with histologic changes of pseudoxanthoma elasticum

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7 January 2021

Arterial calcifications in beta-thalassemia.

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7 January 2021

Renal function in adult beta-thalassemia/Hb E disease

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7 January 2021

Supravalvular aortic stenosis: a splice site mutation within the elastin gene results in reduced expression of two aberrantly spliced transcripts

1 reference

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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7 January 2021

Membrane topology and glycosylation of the human multidrug resistance-associated protein

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7 January 2021

A new structural model for P-glycoprotein

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7 January 2021

Principles governing amino acid composition of integral membrane proteins: application to topology prediction

1 reference

7 January 2021