(Q34090525)

30 July 2017

title

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. (English)

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30 July 2017

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p (English)

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12

Robert K. Koenekoop

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author name string

K F Damji

1

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30 July 2017

M M Sohocki

2

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30 July 2017

R Khan

3

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30 July 2017

S K Gupta

4

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30 July 2017

M Rahim

5

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30 July 2017

M Loyer

6

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30 July 2017

N Hussein

7

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30 July 2017

N Karim

8

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30 July 2017

S S Ladak

9

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30 July 2017

A Jamal

10

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30 July 2017

D Bulman

11

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30 July 2017

R K Koenekoop

12

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30 July 2017

Karim F. Damji

1

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Melanie M. Sohocki

2

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Ravesh Khan

3

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Sanjoy K. Gupta

4

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Musa Rahim

5

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Magali Loyer

6

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Naushad Hussein

7

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Nermin Karim

8

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Shenif S. Ladak

9

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Alnoor Jamal

10

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Dennis Bulman

11

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publication date

1 August 2001

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Canadian Journal of Ophthalmology

30 July 2017

August 2001

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published in

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30 July 2017

volume

36

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30 July 2017

issue

5

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30 July 2017

page(s)

252-259

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Ueber Retinitis pigmentosa und angeborene Amaurose

30 July 2017

cites work

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The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients

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Vision in Leber congenital amaurosis

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[Infantile tapeto-retinal degeneration, Leber type, with marbled aspect of periphery of eye fundus]

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High hyperopia in Leber's congenital amaurosis.

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Keratoconus in congenital diffuse tapetoretinal degeneration

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Retinal aplasia in association with macular coloboma, keratoconus and cataract.

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Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases

7 January 2021

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ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS

7 January 2021

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Concordance and recessive inheritance of Leber congenital amaurosis

7 January 2021

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A gene for Leber's congenital amaurosis maps to chromosome 17p

7 January 2021

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Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis

7 January 2021

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Mutations in RPE65 cause Leber's congenital amaurosis

7 January 2021

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Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy

7 January 2021

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De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis

7 January 2021

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Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

7 January 2021

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A novel locus for Leber congenital amaurosis on chromosome 14q24.

7 January 2021

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A novel locus for Leber congenital amaurosis maps to chromosome 6q

7 January 2021

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7 January 2021

Isolation of genomic DNA

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Prevalence of AIPL1 mutations in inherited retinal degenerative disease

7 January 2021

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7 January 2021

Retinitis pigmentosa.

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Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor

7 January 2021

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Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis

7 January 2021

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Mutational analysis and clinical correlation in Leber congenital amaurosis

7 January 2021

1 reference

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10.1016/S0008-4182(01)80018-1

7 January 2021

Identifiers

DOI

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