(Q24538795)

6 July 2017

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

1 reference

Hermansky-Pudlak syndrome

6 July 2017

0 references

1 reference

19

R A Spritz

1 reference

6 July 2017

Laura M Yerges-Armstrong

5

object named as

L Armstrong

1 reference

6 July 2017

J Oh

1

1 reference

6 July 2017

L Ho

2

1 reference

6 July 2017

S Ala-Mello

3

1 reference

6 July 2017

D Amato

4

1 reference

6 July 2017

S Bellucci

6

1 reference

6 July 2017

G Carakushansky

7

1 reference

6 July 2017

J P Ellis

8

1 reference

6 July 2017

C T Fong

9

1 reference

6 July 2017

J S Green

10

1 reference

6 July 2017

E Heon

11

1 reference

6 July 2017

E Legius

12

1 reference

6 July 2017

A V Levin

13

1 reference

6 July 2017

H K Nieuwenhuis

14

1 reference

6 July 2017

A Pinckers

15

1 reference

6 July 2017

N Tamura

16

1 reference

6 July 2017

M L Whiteford

17

1 reference

6 July 2017

H Yamasaki

18

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 March 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

62

1 reference

6 July 2017

593-598

1 reference

6 July 2017

3

1 reference

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

6 July 2017

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