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gamma proteobacterium M12-26A

 
National Institutes of Health

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Topic mentions per year

2010-2015
0120102015

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2016
2016
A false positive newborn screening result due to a complex allele carrying two frequent CF-causing variants.
The detection of two frequent CFTR disease-causing variations in the context of a newborn screening program (NBS) usually leads… (More)
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2015
2015
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
BACKGROUND Cystic fibrosis, caused by mutations of the CFTR gene, is the most common autosomal recessive condition in the… (More)
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2012
2012
Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families
Background:Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear… (More)
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2010
2010
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.
INTRODUCTION Cystic fibrosis, the most common autosomal recessive disorder, is caused by defects in the CF transmembrane… (More)
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