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Is LMNB1 a susceptibility gene for neural tube defects in humans?

Abstract:

BACKGROUND: Lamins are intermediate filament proteins that form a major component of the nuclear lamina, a protein complex at the surface of the inner nuclear membrane. Numerous clinically diverse conditions, termed laminopathies, have been found to result from mutation of LMNA. In contrast, coding or loss of function mutations of LMNB1, encoding lamin B1, have not been identified in human disease. In mice, polymorphism in Lmnb1 has been shown to modify risk of neural tube defects (NTDs), mal...

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Publication status:
Published

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Publisher copy:
10.1002/bdra.23141

Authors


Robinson, A More by this author
Partridge, D More by this author
De Castro, SC More by this author
Gustavsson, P More by this author
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Journal:
Birth defects research. Part A, Clinical and molecular teratology
Volume:
97
Issue:
6
Pages:
398-402
Publication date:
2013-06-05
DOI:
EISSN:
1542-0760
ISSN:
1542-0752
URN:
uuid:e306b897-dee3-467c-a7ca-5bcc3cbc0083
Source identifiers:
407471
Local pid:
pubs:407471

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