Genotyping microarray (gene chip) for the ABCR (ABCA4) gene. (Q38349817)

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19 December 2019

title

Genotyping microarray (gene chip) for the ABCR (ABCA4) gene (English)

1 reference

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19 December 2019

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11

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19 December 2019

author name string

K Jaakson

1

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19 December 2019

J Zernant

2

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19 December 2019

M Külm

3

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19 December 2019

A Hutchinson

4

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19 December 2019

N Tonisson

5

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19 December 2019

D Glavac

6

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19 December 2019

M Ravnik-Glavac

7

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19 December 2019

M Hawlina

8

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19 December 2019

M R Meltzer

9

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19 December 2019

R C Caruso

10

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19 December 2019

A Maugeri

12

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19 December 2019

C B Hoyng

13

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19 December 2019

P Gouras

14

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19 December 2019

F Simonelli

15

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19 December 2019

R A Lewis

16

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19 December 2019

J R Lupski

17

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19 December 2019

F P M Cremers

18

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19 December 2019

R Allikmets

19

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19 December 2019

publication date

1 November 2003

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19 December 2019

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19 December 2019

volume

22

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19 December 2019

issue

5

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19 December 2019

page(s)

395-403

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Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene

19 December 2019

cites work

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A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy

21 January 2018

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7 January 2021

Simple and complex ABCR: genetic predisposition to retinal disease

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7 January 2021

The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR)

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7 January 2021

Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR

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7 January 2021

Mutational scanning of the ABCR gene with double-gradient denaturing-gradient gel electrophoresis (DG-DGGE) in Italian Stargardt disease patients

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7 January 2021

The 220-kDa rim protein of retinal rod outer segments is a member of the ABC transporter superfamily

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7 January 2021

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

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7 January 2021

Arrayed primer extension: solid-phase four-color DNA resequencing and mutation detection technology

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7 January 2021

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease

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7 January 2021

Retinitis pigmentosa caused by a homozygous mutation in the Stargardt disease gene ABCR

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7 January 2021

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

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7 January 2021

Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy

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7 January 2021

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

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7 January 2021

Minisequencing: a specific tool for DNA analysis and diagnostics on oligonucleotide arrays.

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7 January 2021

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA

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7 January 2021

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

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7 January 2021

Cosegregation and functional analysis of mutant ABCR (ABCA4) alleles in families that manifest both Stargardt disease and age-related macular degeneration.

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7 January 2021

Mutation detection by solid phase primer extension

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7 January 2021

Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration

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7 January 2021

Evaluating the arrayed primer extension resequencing assay of TP53 tumor suppressor gene

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7 January 2021

ABCR unites what ophthalmologists divide(s)

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7 January 2021

Late-onset Stargardt disease is associated with missense mutations that map outside known functional regions of ABCR (ABCA4).

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7 January 2021

Cystic fibrosis: genotypic and phenotypic variations

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7 January 2021