Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico (Q24629069)

Hermansky-Pudlak syndrome

inferred from title

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12

Richard A Spritz

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author name string

Pedro J Santiago Borrero

1

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Yolanda Rodríguez-Pérez

2

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Jessicca Y Renta

3

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Natalio J Izquierdo

4

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Laura Del Fierro

5

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Daniel Muñoz

6

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Norma López Molina

7

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Sonia Ramírez

8

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Glorivee Pagán-Mercado

9

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Idith Ortíz

10

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Enid Rivera-Caragol

11

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Carmen L Cadilla

Journal of Investigative Dermatology

13

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language of work or name

English

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publication date

January 2006

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published in

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volume

126

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issue

1

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page(s)

85-90

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cites work

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

1 reference

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Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2)

7 April 2017

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

7 April 2017

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30

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

7 April 2017

1 reference

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Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies

7 April 2017

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Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2)

7 April 2017

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Human and mouse disorders of pigmentation

7 April 2017

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Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico

27 September 2017

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Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene

27 September 2017

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Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation.

27 September 2017

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Ocular findings in the Hermansky-Pudlak syndrome

27 September 2017

1 reference

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Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3.

27 September 2017

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A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico

27 September 2017

1 reference

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Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel

27 September 2017

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An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids

27 September 2017

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Albinism and Hermansky-Pudlak syndrome in Puerto Rico

27 September 2017

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Genetic epidemiology of structural mutations of the beta-globin gene

27 September 2017

1 reference

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Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism

27 September 2017

1 reference

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Improved microfluorometric DNA determination in biological material using 33258 Hoechst

27 September 2017

1 reference

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Possible origins of the gene of Hermansky-Pudlak in Puerto Rico

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3560388

Effect of pirfenidone on the pulmonary fibrosis of Hermansky-Pudlak syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3560388

Estimation of carrier frequency of a 2.7 kb deletion allele of the P gene associated with OCA2 in African-Americans

28 November 2018

1 reference

12 December 2020

Insights into the biogenesis of lysosome-related organelles from the study of the Hermansky-Pudlak syndrome

1 reference

12 December 2020

Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes

1 reference

12 December 2020

Hermansky-Pudlak syndrome (HPS). An epidemiologic study

1 reference

12 December 2020