(Q35161651)

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Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21835304%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa (English)

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10 February 2020

Riza Koksal Ozgul

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10 February 2020

Joseph C. Corbo

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10 February 2020

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Dror Sharon

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10 February 2020

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Anna M Siemiatkowska

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10 February 2020

Didem Yücel

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10 February 2020

Connie A Myers

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10 February 2020

Rob W J Collin

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10 February 2020

Marijke N Zonneveld

6

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10 February 2020

Avigail Beryozkin

7

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10 February 2020

Eyal Banin

8

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10 February 2020

Carel B Hoyng

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10 February 2020

L Ingeborgh van den Born

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10 February 2020

European Retinal Disease Consortium

11

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10 February 2020

Ron Bose

12

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10 February 2020

Wei Shen

13

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10 February 2020

Frans P M Cremers

15

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10 February 2020

B Jeroen Klevering

16

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10 February 2020

Anneke I den Hollander

17

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10 February 2020

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1 August 2011

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10 February 2020

American Journal of Human Genetics

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10 February 2020

89

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10 February 2020

2

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10 February 2020

253-264

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10 February 2020

describes a project that uses

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11 June 2022

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Negative regulation of ciliary length by ciliary male germ cell-associated kinase (Mak) is required for retinal photoreceptor survival

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Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa

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Identifiers

10.1016/J.AJHG.2011.07.005

1 reference

Europe PubMed Central

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10 February 2020

1 reference

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10 February 2020

1 reference

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10 February 2020

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