Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
about
Advances in basic and clinical immunology in 2013A novel TAZ gene mutation and mosaicism in a Polish family with Barth syndrome.Using whole-exome sequencing to identify variants inherited from mosaic parentsExome and genome sequencing for inborn errors of immunity.A novel deletion mutation in IL2RG gene results in X-linked severe combined immunodeficiency with an atypical phenotype.
P2860
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.
description
2013 nî lūn-bûn
@nan
2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
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2013年學術文章
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2013年學術文章
@zh-hant
name
Massively parallel sequencing ...... bined immunodeficiency family.
@en
Massively parallel sequencing ...... bined immunodeficiency family.
@nl
type
label
Massively parallel sequencing ...... bined immunodeficiency family.
@en
Massively parallel sequencing ...... bined immunodeficiency family.
@nl
prefLabel
Massively parallel sequencing ...... bined immunodeficiency family.
@en
Massively parallel sequencing ...... bined immunodeficiency family.
@nl
P2093
P50
P1476
Massively parallel sequencing ...... mbined immunodeficiency family
@en
P2093
Ana M Plaza
Isabel Badell
Jordi Yagüe
Mariona Pascal
María Anunciación Martín-Mateos
María Teresa Giner
Mónica Piquer
P304
741-743.e2
P356
10.1016/J.JACI.2013.03.038
P407
P577
2013-05-15T00:00:00Z