Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristics
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-003-0933-5.pdf
Reference30 articles.
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2. Brantly M, Avila NA, Shotelersuk V, Lucero C, Huizing M, Gahl WA (2000) Pulmonary function and high-resolution CT findings in patients with an inherited form of pulmonary fibrosis, Hermansky-Pudlak syndrome, due to mutations in HPS-1. Chest 117:129–136
3. Dell'Angelica EC, Ooi CE, Bonifacino JS (1997a) Beta3A–adaptin, a subunit of the adaptor-like complex AP-3. J Biol Chem 272:15078–15084
4. Dell'Angelica EC, Ohno H, Ooi CE, Rabinovich E, Roche KW, Bonifacino JS (1997b) AP-3: an adaptor-like protein complex with ubiquitous expression. EMBO J 16:917–928
5. Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS (1999) Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta-3A subunit of the AP-3 adaptor. Mol Cell 3:11–21
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