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

https://scigraph.springernature.com/pub.10.1038/ng0298-174

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language of work or name

English

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publication date

February 1998

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published in

Nature Genetics

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volume

18

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page(s)

174-6

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issue

2

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exact match

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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

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

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

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Cochlear and retinal degeneration in the tubby mouse

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

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Missense rhodopsin mutation in a family with recessive RP

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

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

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

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

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

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

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