Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (Q59409782)

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5 November 2019

title

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon (English)

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Han G Brunner

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Lies H Hoefsloot

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Frans P M Cremers

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Bernd Wissinger

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Ilse J de Wijs

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author name string

Hans-Hilger Ropers

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José A J M van den Hurk

1

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Dorien J R van de Pol

2

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Marc A van Driel

4

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L Ingeborgh van den Born

7

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John R Heckenlively

8

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publication date

25 June 2003

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5 November 2019

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volume

113

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issue

3

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5 November 2019

page(s)

268-275

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https://scigraph.springernature.com/pub.10.1007/s00439-003-0970-0

5 November 2019

exact match

0 references

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Mutation spectrum in the CHM gene of Danish and Swedish choroideremia patients

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Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product

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A novel mutation (S558X) causing choroideremia

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

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A carboxy-terminal truncation of 99 amino acids resulting from a novel mutation (Arg555-->stop) in the CHM gene leads to choroideremia

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Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

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Altered rep-1 expression due to substitution at position +3 of the IVS13 splice-donor site of the choroideremia (CHM) gene.

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A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma.

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Isolation of a candidate gene for choroideremia

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An autosomal homologue of the choroideremia gene colocalizes with the Usher syndrome type II locus on the distal part of chromosome 1q

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Full-length human L1 insertions retain the capacity for high frequency retrotransposition in cultured cells.

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10.1007/S00439-003-0970-0

Identifiers

DOI

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5 November 2019

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