Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

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Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

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2014 nî lūn-bûn

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2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2014 թվականի ապրիլին հրատարակված գիտական հոդված

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2014年の論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年論文

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2014年论文

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name

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@ast

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@en

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome

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type

Item

label

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@ast

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@en

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome

@nl

prefLabel

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@ast

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@en

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome

@nl

P1476

Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3).

@en

P2093

Carmen L Cadilla

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Javier Jardón

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Jessica Y Renta

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Natalio J Izquierdo

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Omar García-Rodríguez

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P2860

Oculocutaneous albinism

Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

Organization and sequence of the human P gene and identification of a new family of transport proteins

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico

A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment.

Multi-organellar disorders of pigmentation: tied up in traffic.

P304

89-94

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P31

scholarly article

P356

10.3109/13816810.2014.907920

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P433

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P478

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P577

2014-04-28T00:00:00Z

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P698

24766090

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P932

4232478

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