Discover Community Create You

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

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.

The American journal of medicine - 1 Apr 2000

Shotelersuk V, Dell'Angelica E C, Hartnell L, Bonifacino J S, Gahl W A

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Albinism, Oculocutaneous
Share to Diagnosis, Differential
Share to Membrane Proteins
Share to Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 10759101
DOI: 10.1016/s0002-9343(99)00436-2

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation.PMID 10759101Read ↗

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

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.Semantic proximity Read ↗

Hermansky-Pudlak syndrome and related disorders of organelle formation.Semantic proximity Read ↗

Hermansky-Pudlak SyndromeSemantic proximity Read ↗

Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking.Semantic proximity Read ↗

Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function.Semantic proximity Read ↗

A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.Semantic proximity Read ↗

Improper Trafficking of Melanocyte-Specific Proteins in Hermansky–Pudlak Syndrome Type-5Semantic proximity Read ↗

A novel nonsense mutation in a patient with Hermansky-Pudlak syndrome type 4.Semantic proximity Read ↗

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

Murine Hermansky-Pudlak syndrome genes: regulators of lysosome-related organelles.Semantic proximity Read ↗

Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.Semantic proximity Read ↗

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