Positional cloning of the gene for X-linked retinitis pigmentosa 2 (Q24322014)

GOA release 2020-03-11

unfolded protein binding

1 reference

GOA release 2020-03-11

retinitis pigmentosa

1 reference

inferred from title

retinitis pigmentosa 2

1 reference

6

G van Duijnhoven

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author name string

U Schwahn

1

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S Lenzner

2

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J Dong

3

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S Feil

4

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B Hinzmann

5

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R Kirschner

7

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M Hemberger

8

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A A Bergen

9

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T Rosenberg

10

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A J Pinckers

11

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R Fundele

12

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A Rosenthal

13

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F P Cremers

14

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H H Ropers

15

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W Berger

Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28

16

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language of work or name

English

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publication date

August 1998

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published in

Nature Genetics

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volume

19

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issue

4

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page(s)

327-32

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cites work

1 reference

7 January 2021

Two different genes for X-linked retinitis pigmentosa

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7 January 2021

Localizing multiple X chromosome-linked retinitis pigmentosa loci using multilocus homogeneity tests

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7 January 2021

A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)

1 reference

7 January 2021

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1

1 reference

7 January 2021

Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa

1 reference

7 January 2021

Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: a genetically defined 5-cM critical region and exclusion of candidate genes by physical mapping

1 reference

7 January 2021

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

1 reference

7 January 2021

Pathway leading to correctly folded beta-tubulin

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7 January 2021

The impact of L1 retrotransposons on the human genome

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7 January 2021

Insertion of long interspersed repeated elements at the Igh (immunoglobulin heavy chain) and Mlvi-2 (Moloney leukemia virus integration 2) loci of rats

1 reference

7 January 2021

Empty and occupied insertion site of the truncated LINE-1 repeat located in the mouse serum albumin-encoding gene

1 reference

7 January 2021

A major polymorphism in the rat SA gene caused by the insertion of a LINE element

1 reference

7 January 2021

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

7 January 2021

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

7 January 2021

The spastic mouse: aberrant splicing of glycine receptor beta subunit mRNA caused by intronic insertion of L1 element

1 reference

7 January 2021

Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon

1 reference

7 January 2021

Identification of the murine beige gene by YAC complementation and positional cloning

1 reference

7 January 2021

Cloning of a gene that is rearranged in patients with choroideraemia

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7 January 2021

Cytoplasmic mRNA-protein interactions in eukaryotic gene expression

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7 January 2021

Control of messenger RNA stability in higher eukaryotes

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7 January 2021

Localization of actin and tubulin in developing and adult mammalian photoreceptors.

1 reference

7 January 2021

Formation of the retinal ganglion cell and optic fiber layers

1 reference

7 January 2021

Distribution of acetylated alpha-tubulin in retina and in vitro-assembled microtubules

1 reference

7 January 2021

A 1.8-Mb YAC contig in Xp11.23: identification of CpG islands and physical mapping of CA repeats in a region of high gene density.

1 reference

7 January 2021

Physical mapping in a YAC contig of 11 markers on the human X chromosome in Xp11.23

1 reference

7 January 2021

In vivo footprinting of a muscle specific enhancer by ligation mediated PCR.

1 reference

7 January 2021

The abundant LINE-1 family of repeated DNA sequences in mammals: genes and pseudogenes

1 reference

7 January 2021

An improved PCR method for walking in uncloned genomic DNA.

1 reference

7 January 2021

Isolation of a candidate gene for Norrie disease by positional cloning

1 reference

7 January 2021

Photoactivation of caged compounds in single living cells: an application to the study of cell locomotion

1 reference

7 January 2021