A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
about
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.A knock-in/knock-out mouse model of HSPB8-associated distal hereditary motor neuropathy and myopathy reveals toxic gain-of-function of mutant Hspb8.The role of αB-crystallin in skeletal and cardiac muscle tissues.Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.
P2860
A novel dominant D109A CRYAB mutation in a family with myofibrillar myopathy affects αB-crystallin structure.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
@yue
2016年學術文章
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2016年學術文章
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name
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@en
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@nl
type
label
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@en
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@nl
prefLabel
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@en
A novel dominant D109A CRYAB m ...... fects αB-crystallin structure.
@nl
P2093
P2860
P50
P1433
P1476
A novel dominant D109A CRYAB m ...... ffects αB-crystallin structure
@en
P2093
Anna M Kaminska
Przemysław Miszta
Sławomir Filipek
P2860
P356
10.1016/J.BBACLI.2016.11.004
P577
2016-11-11T00:00:00Z