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

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.

Pediatric blood & cancer - 15 Dec 2010

Chiang Pei-Wen, Spector Elaine, Thomas Martha, Frei-Jones Melissa

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 Child, Preschool
Share to Hermanski-Pudlak Syndrome
Share to Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 20981699
DOI: 10.1002/pbc.22793

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation causing Hermansky-Pudlak Syndrome Type 2.PMID 20981699Read ↗

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

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

Hermansky-Pudlak SyndromeSemantic proximity Read ↗

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

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

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

Case of Hermansky-Pudlak syndrome 1 patient with milder symptoms in Japanese.Semantic proximity Read ↗

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

New p57 KIP2 mutations in Beckwith-Wiedemann syndromeSemantic proximity Read ↗

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorderSemantic proximity Read ↗

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

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