Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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Clinico-molecular analysis of eleven patients with Hermansky-Pudlak type 5 syndrome, a mild form of HPS.Hermansky-Pudlak syndrome subtype 5 (HPS-5) novel mutation in a 65 year-old with oculocutaneous hypopigmentation and mild bleeding diathesis: The importance of recognizing a subtle phenotype.Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting.
P2860
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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2017 nî lūn-bûn
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2017年の論文
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2017年学术文章
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2017年学术文章
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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type
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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prefLabel
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
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Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
@en
P2093
P2860
P1433
P1476
Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5
@en
P2093
Bernadette R Gochuico
Brian P Brooks
David R Adams
Elena-Raluca Nicoli
Joshi Stephen
Kevin J O'Brien
Laryssa Huryn
Nathanial J Tolman
Steven A Titus
P2860
P304
P356
10.1371/JOURNAL.PONE.0173682
P407
P577
2017-03-15T00:00:00Z