Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency (Q62658164)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30422821%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

title

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency (English)

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Yoshitaka Honda

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Satoshi Okada

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Anne Puel

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Jean-Laurent Casanova

26

object named as

Jean-Laurent Casanova

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Andrew R Gennery

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Ryuta Nishikomori

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Takahiro Yasumi

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Matthieu Bendavid

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Maya Chrabieh

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Benedetta Bigio

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Jacinta Bustamante

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Osamu Ohara

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Laurent Abel

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Yuval Itan

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Masahiko Ajiro

3

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Yuri Kawasaki

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Jose Ichishima

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Mitsujiro Osawa

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Hiroshi Nihira

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Takeshi Shiba

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Takayuki Tanaka

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Hong Hur

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Yupu Liang

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Kazushi Izawa

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Toshio Heike

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Megumu K Saito

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Masatoshi Hagiwara

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language of work or name

English

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publication date

18 December 2018

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Journal of Clinical Investigation

3 May 2020

published in

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volume

129

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issue

2

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page(s)

583-597

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Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit

3 May 2020

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A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations

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Identifiers

DOI

10.1172/JCI124011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30422821%20AND%20SRC:MED&resulttype=core&format=json

3 May 2020

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3 May 2020

PubMed publication ID

30422821

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