Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.

Journal of dermatological science - 1 Nov 2004

Suzuki Tamio, Ito Shiro, Inagaki Katsuhiko, Suzuki Noriyuki, Tomita Yasushi, Yoshino Makoto, Hashimoto Takashi

Abstract excerpt

No abstract is available from the source.

Topics

Join the communities discussing this publication.

Adenine
Asian People
Child, Preschool
DNA, Recombinant
Guanine
Hermanski-Pudlak Syndrome
Introns

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Membrane Proteins

Source

Identifiers

PMID: 15519141
DOI: 10.1016/j.jdermsci.2004.08.008

Genes

HPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Investigation on the IVS5 +5G --> a splice site mutation of HPS1 gene found in Japanese patients with Hermansky-Pudlak syndrome.PMID 15519141Read ↗

The first case report of a Chinese Hermansky-Pudlak syndrome patient with a novel mutation on HPS1 gene.Semantic proximity Read ↗

Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPSSemantic proximity Read ↗

Synonymous but Significant: New Findings of Pathological Variants in Hermansky-Pudlak Syndrome.Semantic proximity Read ↗

[Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review].Semantic proximity Read ↗

Microsatellite markers as a rapid approach for autozygosity mapping in Hermansky-Pudlak syndrome: identification of the second HPS7 mutation in a patient presenting late in life.Semantic proximity Read ↗

High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein.Semantic proximity Read ↗

Hermansky-Pudlak syndrome type 4 with a novel mutation.Semantic proximity Read ↗

Identification of p.Glu131Lys Mutation in the IHH Gene in a Korean Patient With Brachydactyly Type A1.Semantic proximity Read ↗

A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.Semantic proximity Read ↗

Novel variant in HPS3 gene in a patient with Hermansky Pudlak syndrome (HPS) type 3.Semantic proximity Read ↗

Genetic variants and mutational spectrum of Chinese Hermansky-Pudlak syndrome patients.Semantic proximity Read ↗

STK11 gene analysis reveals a significant number of splice mutations in Chinese PJS patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.