Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity (Q24538795)

6 July 2017

title

Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity (English)

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Hermansky-Pudlak syndrome

6 July 2017

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19

R A Spritz

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6 July 2017

Laura M Yerges-Armstrong

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object named as

L Armstrong

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6 July 2017

J Oh

1

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L Ho

2

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S Ala-Mello

3

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D Amato

4

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S Bellucci

6

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G Carakushansky

7

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J P Ellis

8

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C T Fong

9

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J S Green

10

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E Heon

11

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E Legius

12

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A V Levin

13

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H K Nieuwenhuis

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A Pinckers

15

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N Tamura

16

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M L Whiteford

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H Yamasaki

18

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6 July 2017

language of work or name

English

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publication date

1 March 1998

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American Journal of Human Genetics

6 July 2017

published in

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6 July 2017

volume

62

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6 July 2017

issue

3

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6 July 2017

page(s)

593-598

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

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Hermansky-Pudlak syndrome in a Swiss population

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Evidence for locus heterogeneity in Puerto Ricans with Hermansky-Pudlak syndrome

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Genetics, development, and malignancy of melanocytes.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

beta-Thalassemia in Chinese: use of in vivo RNA analysis and oligonucleotide hybridization in systematic characterization of molecular defects

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Albinism and Hermansky-Pudlak syndrome 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=1376951

Skipping of exon 12 as a consequence of a point mutation (1898 + 5G-->T) in the cystic fibrosis transmembrane conductance regulator gene found in a consanguineous Chinese family

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

[Hermansky-Pudlak syndrome in a Valais village]

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1376951

The Hermansky-Pudlak syndrome. Evidence for a lowered 5-hydroxytryptamine content in platelets of heterozygotes

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9497254

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Specific transcription and RNA splicing defects in five cloned β-thalassaemia genes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9497254

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9497254

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/301757

1 reference

6 July 2017

1 reference

6 July 2017

1 reference