Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa (Q24309027)

GOA release 2020-03-11

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S A Hagstrom

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M A North

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P L Nishina

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E L Berson

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T P Dryja

A candidate gene for the mouse mutation tubby

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language of work or name

English

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publication date

February 1998

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174-6

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cites work

1 reference

Identification and characterization of the mouse obesity gene tubby: a member of a novel gene family

20 April 2017

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Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases

20 April 2017

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Mutations in the PDE6B gene in autosomal recessive retinitis pigmentosa

20 April 2017

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TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa.

20 April 2017

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https://api.crossref.org/works/10.1038%2FNG0298-174

Ocular findings in patients with autosomal dominant retinitis pigmentosa and a rhodopsin gene defect (Pro-23-His).

21 January 2018

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Ocular findings in patients with autosomal dominant retinitis pigmentosa and rhodopsin, proline-347-leucine

21 January 2018

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Fat (fat) and tubby (tub): two autosomal recessive mutations causing obesity syndromes in the mouse

21 January 2018

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7 January 2021

Cochlear and retinal degeneration in the tubby mouse

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7 January 2021

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

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7 January 2021

Missense rhodopsin mutation in a family with recessive RP

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7 January 2021

Mutation spectrum of the gene encoding the beta subunit of rod phosphodiesterase among patients with autosomal recessive retinitis pigmentosa

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7 January 2021

Homozygous tandem duplication within the gene encoding the beta-subunit of rod phosphodiesterase as a cause for autosomal recessive retinitis pigmentosa.

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7 January 2021

Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase

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7 January 2021

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa

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https://api.crossref.org/works/10.1038%2FNG0298-174

7 January 2021

Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa

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https://api.crossref.org/works/10.1038%2FNG0298-174

7 January 2021

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

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https://api.crossref.org/works/10.1038%2FNG0298-174

7 January 2021

Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants

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https://api.crossref.org/works/10.1038%2FNG0298-174

7 January 2021

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

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7 January 2021