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Familial dysautonomia
scientific article (publication date: June 2002)
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instance of
scholarly article
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review article
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stated in
Europe PubMed Central
title
Familial dysautonomia
(English)
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main subject
dysautonomia
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based on heuristic
inferred from title
author
James F. Gusella
series ordinal
2
object named as
James F Gusella
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author name string
Susan A Slaugenhaupt
series ordinal
1
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language of work or name
English
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publication date
June 2002
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published in
Current Opinion in Genetics & Development
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volume
12
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issue
3
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page(s)
307-11
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cites work
Incidence of familial dysautonomia in Israel 1977-1981
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7 January 2021
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Ictal SPECT during autonomic crisis in familial dysautonomia
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7 January 2021
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Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis.
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reference URL
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Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31
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reference URL
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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia
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Familial dysautonomia is caused by mutations of the IKAP gene
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reference URL
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Initial sequencing and analysis of the human genome
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The Sequence of the Human Genome
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Modulation of exon skipping and inclusion by heterogeneous nuclear ribonucleoprotein A1 and pre-mRNA splicing factor SF2/ASF.
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Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation.
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reference URL
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IKAP is a scaffold protein of the IkappaB kinase complex
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reference URL
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The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.
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Elongator, a Multisubunit Component of a Novel RNA Polymerase II Holoenzyme for Transcriptional Elongation
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RNA polymerase II elongator holoenzyme is composed of two discrete subcomplexes
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A multiprotein complex that interacts with RNA polymerase II elongator
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900303-9
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Characterization of a six-subunit holo-elongator complex required for the regulated expression of a group of genes in Saccharomyces cerevisiae
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7 January 2021
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Purification and characterization of the human elongator complex
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Amino-acid substitutions in the IKAP gene product significantly increase risk for bronchial asthma in children
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7 January 2021
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Cloning, characterization, and genomic structure of the mouse Ikbkap gene.
1 reference
stated in
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2802%2900303-9
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7 January 2021
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Genomic organization and chromosomal localization of the mouse IKBKAP gene
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reference URL
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Identifiers
DOI
10.1016/S0959-437X(02)00303-9
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PubMed publication ID
12076674
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