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Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

scientific article (publication date: 1997)

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Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene (English)

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

main subject

vitelliform macular dystrophy

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Ute Felbor

1

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

Harald Schilling

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2

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

Bernhard H. F. Weber

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3

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

publication date

1997

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

25 May 2017

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

volume

10

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

issue

4

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

page(s)

301-309

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https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

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25 May 2017

cites work

A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration

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reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

retrieved

21 January 2018

Clinical Features of a Previously Undescribed Codon 216 (proline to serine) Mutation in the Peripherin/Retinal Degeneration Slow Gene in Autosomal Dominant Retinitis Pigmentosa

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

retrieved

21 January 2018

Retinitis Pigmentosa Associated With a Dominant Mutation in Codon 46 of the Peripherin/RDS Gene (Arginine-46-Stop)

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

retrieved

21 January 2018

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1098-1004(1997)10:4<301::AID-HUMU6>3.0.CO;2-J

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reference URL

https://doi.org/10.1002%2F%28SICI%291098-1004%281997%2910%3A4%3C301%3A%3AAID-HUMU6%3E3.0.CO%3B2-J

(Q30048094)

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene

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