A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma. (Q38342055)

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7 November 2019

title

A hemizygous A to CC base change of the CHM gene causing choroideremia associated with pinealoma (English)

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7 November 2019

1

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7 November 2019

author name string

K Fujiki

2

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7 November 2019

M Hayakawa

3

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7 November 2019

N Kohno

4

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7 November 2019

H Kitagawa

5

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7 November 2019

R Doi

6

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7 November 2019

A Kanai

7

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7 November 2019

publication date

1 October 1997

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Graefe's Archive for Clinical and Experimental Ophthalmology

7 November 2019

published in

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7 November 2019

volume

235

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7 November 2019

issue

10

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7 November 2019

page(s)

653-655

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Identification of mutations in Danish choroideremia families

7 November 2019

cites work

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12 December 2020

Aberrant splicing of the CHM gene is a significant cause of choroideremia

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12 December 2020

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

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12 December 2020

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1 reference

12 December 2020

Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing

1 reference

12 December 2020

Regional localization of polymorphic DNA loci on the proximal long arm of the X chromosome using deletions associated with choroideremia

1 reference

12 December 2020

Cooperative tumorigenic effects of germline mutations in Rb and p53

1 reference

12 December 2020

Cloning and characterization of the human choroideremia gene

1 reference

12 December 2020

Cloning of a gene that is rearranged in patients with choroideraemia

1 reference

12 December 2020

Retinal degeneration in choroideremia: deficiency of rab geranylgeranyl transferase

1 reference

12 December 2020

REP-2, a Rab escort protein encoded by the choroideremia-like gene

1 reference

12 December 2020

Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene

1 reference

12 December 2020