A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q2 (Q24671618)

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

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instance of

scholarly article

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title

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

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main subject

Hermansky-Pudlak syndrome

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based on heuristic

inferred from title

author name string

S C Wildenberg

series ordinal

1

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W S Oetting

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2

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C Almodóvar

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3

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M Krumwiede

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4

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J G White

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5

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R A King

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6

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language of work or name

English

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publication date

October 1995

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published in

American Journal of Human Genetics

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volume

57

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issue

4

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page(s)

755-65

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cites work

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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

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The murine pallid mutation is a platelet storage pool disease associated with the protein 4.2 (pallidin) gene

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

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Hermansky-Pudlak syndrome with granulomatous colitis

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Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

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Fatal bleeding following tooth extraction. Hermansky-Pudlak-syndrome

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Hermansky-Pudlak syndrome (HPS): A proposed block in glutathione peroxidase

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The role of ceroid in lung and gastrointestinal disease in Hermansky-Pudlak syndrome

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Linkage of rhm, a recessive gene for resistance to southern corn leaf blight, to RFLP marker loci in maize (Zea mays) seedlings.

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Avoiding recomputation in linkage analysis.

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28 November 2018

PCR-amplification of simple sequence repeat variants from pooled DNA samples for rapidly mapping new mutations of the mouse

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Jewish diseases and origins

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The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency

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Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis)

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Hermansky-Pudlak syndrome: a clinicopathologic study

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12 December 2020

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Elevated urinary dolichol excretion in the Hermansky-Pudlak syndrome. Indicator of lysosomal dysfunction

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Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome

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Hermansky-Pudlak syndrome. Ophthalmic findings

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Hermansky-Pudlak syndrome (HPS). An epidemiologic study

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12 December 2020

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Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene

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12 December 2020

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Repeated sequences as genetic markers in pooled tissue samples

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12 December 2020

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Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome

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12 December 2020

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A study of the origin of 'shadow bands' seen when typing dinucleotide repeat polymorphisms by the PCR

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12 December 2020

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An alternate universal forward primer for improved automated DNA sequencing of M13

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12 December 2020

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Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7573033

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/7573033

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

PMC publication ID

1801499

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PubMed publication ID

7573033

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