(Q48050499)

8 February 2018

title

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

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8 February 2018

Hermansky-Pudlak syndrome

main subject

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4

Spritz RA

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8 February 2018

author name string

Feng GH

series ordinal

1

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8 February 2018

Bailin T

series ordinal

2

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8 February 2018

Oh J

series ordinal

3

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8 February 2018

publication date

1 May 1997

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8 February 2018

published in

Human Molecular Genetics

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8 February 2018

volume

6

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8 February 2018

page(s)

793-797

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8 February 2018

issue

5

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8 February 2018

Hermansky-Pudlak syndrome in a Swiss population

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

The platelet defect associated with albumism.

21 January 2018

1 reference

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The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Conserved sequences in a class of rare eukaryotic nuclear introns with non-consensus splice sites

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Requirement of U12 snRNA for in vivo splicing of a minor class of eukaryotic nuclear pre-mRNA introns

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

A novel spliceosome containing U11, U12, and U5 snRNPs excises a minor class (AT-AC) intron in vitro

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Nucleotide sequences of murine intracisternal A-particle gene LTRs have extensive variability within the R region

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Neomorphic agouti mutations in obese yellow mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Identification of the murine beige gene by YAC complementation and positional cloning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Genetic control of retinal ganglion cell projections

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Pigment mutations in the mouse which also affect lysosomal functions lead to suppressed natural killer cell activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

Hermansky-Pudlak syndrome: an immunologic assessment of 15 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F6.5.793

21 January 2018

Identifiers

DOI

10.1093/HMG/6.5.793

1 reference

8 February 2018

PubMed ID

9158155

1 reference

8 February 2018