Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews (Q74457651)

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10 November 2019

title

Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews (English)

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10 November 2019

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5

Robert J Desnick

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10 November 2019

author name string

Jianli Dong

1

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10 November 2019

Lisa Edelmann

2

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10 November 2019

Asghar M Bajwa

3

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10 November 2019

Ruth Kornreich

4

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10 November 2019

publication date

1 July 2002

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American Journal of Medical Genetics Part A

10 November 2019

published in

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10 November 2019

volume

110

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10 November 2019

issue

3

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10 November 2019

page(s)

253-257

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Familial dysautonomia is caused by mutations of the IKAP gene

10 November 2019

cites work

1 reference

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Familial dysautonomia: a 47-year perspective. How technology confirms clinical acumen

21 January 2018

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Familial dysautonomia: a prospective study of survival

21 January 2018

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Neonatal recognition of familial dysautonomia

21 January 2018

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Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedure

21 January 2018

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Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population

21 January 2018

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Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

21 January 2018

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Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10450

IKAP is a scaffold protein of the IkappaB kinase complex

21 January 2018

1 reference

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A robotics-assisted procedure for large scale cystic fibrosis mutation analysis.

21 January 2018

1 reference

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Nonradioactive detection of the common Connexin 26 167delT and 35delG mutations and frequencies among Ashkenazi Jews

21 January 2018

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Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population

21 January 2018

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Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33

21 January 2018

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Frequency and carrier risk associated with common BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer patients

21 January 2018

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The I kappa B kinase (IKK) complex is tripartite and contains IKK gamma but not IKAP as a regular component.

21 January 2018

1 reference

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Carrier frequency of the Bloom syndrome blmAsh mutation in the Ashkenazi Jewish population

21 January 2018

1 reference

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Incidence of familial dysautonomia in Israel 1977-1981

21 January 2018

1 reference

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A simplified procedure for developing multiplex PCRs

21 January 2018

1 reference

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Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.10450

ABSENCE OF TASTE-BUD PAPILLAE IN FAMILIAL DYSAUTONOMIA

21 January 2018

1 reference

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21 January 2018

Identifiers

DOI

10.1002/AJMG.10450

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12116234%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

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