Rapid Detection of the ACMG/ACOG-Recommended 23 CFTR Disease-Causing Mutations Using Ion Torrent Semiconductor Sequencing
نویسندگان
چکیده
منابع مشابه
Alteration of CFTR transmembrane span integration by disease-causing mutations
Many missense mutations in the cystic fibrosis transmembrane conductance regulator protein (CFTR) result in its misfolding, endoplasmic reticulum (ER) accumulation, and, thus, cystic fibrosis. A number of these mutations are located in the predicted CFTR transmembrane (TM) spans and have been projected to alter span integration. However, the boundaries of the spans have not been precisely defin...
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ژورنال
عنوان ژورنال: Journal of Biomolecular Techniques : JBT
سال: 2012
ISSN: 1524-0215,1943-4731
DOI: 10.7171/jbt.12-2301-003