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Article

A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.

Molecular vision - 17 Sept 1996

Danciger M, Heilbron V, Gao Y Q, Zhao D Y, Jacobson S G, Farber D B

Abstract excerpt

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Topics

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Share to 3',5'-Cyclic-GMP Phosphodiesterases
Share to Cyclic Nucleotide Phosphodiesterases, Type 6
Share to Eye Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Retinal Degeneration

Share to Retinitis Pigmentosa

Source

Identifiers

PMID: 9238087

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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A homozygous PDE6B mutation in a family with autosomal recessive retinitis pigmentosa.PMID 9238087Read ↗

PDE6B Mutation-associated Inherited Retinal Disease.Semantic proximity Read ↗

Analysis of PDE6G mutations in a patient with retinitis pigmentosa.Semantic proximity Read ↗

Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families.Semantic proximity Read ↗

A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing.Semantic proximity Read ↗

Clinical Phenotype of PDE6B-Associated Retinitis Pigmentosa.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani familySemantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

P.arg102ser is a common Pde6a mutation causing autosomal recessive retinitis pigmentosa in Pakistani families.Semantic proximity Read ↗

Next-generation sequencing revealed a novel mutation in the gene encoding the beta subunit of rod phosphodiesterase.Semantic proximity Read ↗

Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene.Semantic proximity Read ↗

Targeted next-generation sequencing reveals that a compound heterozygous mutation in phosphodiesterase 6a gene leads to retinitis pigmentosa in a Chinese family.Semantic proximity Read ↗

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.Semantic proximity Read ↗

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