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HCF-1 Basic region mutants carrying the HCF-1 siRNA-resistant mutation described previously [6] were prepared using the Quick Change system according to the manufacturer protocol (Stratagene).
These ZFNs provide a new tool to model WAS in other human cell lines, including embryonic stem cells, and should allow the development of human cellular models of any WAS mutation described previously in patients.
In our dataset, we found a rare LOF variant in BMP15 in ORCADES: in the exome sequence dataset, a single male carried a (hemizygous) LOF frameshift variant in the mature protein-coding region of BMP15, upstream of the missense mutation described previously (29).
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Variants of an Fcab specific for Her-2 were designed to display either enhanced (S239D A330L I332E) or diminished (L234A L235A) binding affinities to the Fc receptor CD16a based on mutations described previously.
After that, the clinical course was clearly distinct from patients with other CFH mutation and was similar to patients with MCP mutations described previously.
The E746_A750 deletion and L858R substitution mutations were the most common (9 out of 11 mutations. 81.8%) and are well-known hotspot mutations described previously (Kosaka et al, 2004; Pao et al, 2004).
The E746_A750 deletion and L858R substitution mutation were the most common (8 out of 9, 88.9%), and both are well-known hot spot mutations described previously (Kosaka et al, 2004; Han et al, 2005).
The methods to detect HBV basal core promoter (BCP) A1762T/G1764A mutations, precore stop codon G1896A mutation, rtM204I mutation, rtM204V mutation, rtL180M mutation were described previously [ 10, 26].
A cysteine residue in position 4 of NS1 protein was replaced with a glycine; this mutation was described previously only for Sofjin-HO (BAB72162).
The SIM rate of E. coli FC40 harboring pTL01-16 was determined by the Lac + reversion mutation assay described previously [ 14] with slight modifications.
Mutation c.2900_2901dupCT in the BRCA1 gene and mutations c.4030del6insC, c.5189dupA, c.8009delC, and c.9274delT in the BRCA2 gene are mutations not described previously.
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