The verdict comes as a surprise, as the drug watchword had earlier in 2016 approved Sarepta's Exondys 51 injection for DMD patients who have confirmed mutation of dystrophin gene amenable to
exon 51 skipping, which affects about 13% of the population with DMD.
In this study two rare, missense variants were detected as compound heterozygous state in the WDR62 gene of these patients results as c.797C>T,
exon 7 (Ala266Val) and c.1102G>A,
exon 9 (Asp368Asn) and these mutation leading to the typical MCPH2 MIM 604317 phenotype in Saudi family.
Of the two variants, one is a novel missense variant in
exon 4 (c.349G>A, p.Gly117Arg), and the other was a novel nonsense variant in
exon 10 (c.878C>A, p.Ser293 *).
Erlotinib Tablets are indicated for the treatment of patients with metastatic non-small cell lung cancer (NSCLC) whose tumors have epidermal growth factor receptor
exon 19 deletions or
exon 21 (L858R) substitution mutations as detected by an FDA-approved test receiving first-line, maintenance, or second or greater line treatment after progression following at least one prior chemotherapy regimen.
In this study, the SNP loci T516121C and C504498T were found in
exons 1 and 2 of the giant panda GnRHR gene, and no SNP locus in
exon 3 was detected.
KCNE1 has several transcripts in humans, and the last
exon of KCNE1 is already known to participate in encoding proteins.
We categorized the mutations according to their
exon locations (
exon 2 and 10) and retrieved the clinical and demographic information from the database.
The KMT2A gene shows broad expression in almost all human tissues (14,15) and contains 36
exons that encode different isoforms (Ref Seq 2010).
Conclusion: We identified a missense mutation (p.Ala240Pro) in gene PAX9 coding
exon 3 in Pakistani family with hypodontia.
Exons 1-9 of nucleotide-bind domain and leucine-rich repeat containing family pyrin-domain containing ( NLRP ) 3 gene and
exon 3 of NLRP12 were amplified by polymerase chain reaction (PCR).
Pharmaceuticals company Roche (SIX:RO)(OTCQX:RHHBY) Thursday announced the US Food and Drug Administration's (FDA) approval for the cobas EGFR Mutation Test v2 companion diagnostic test (CDx) with IRESSA (gefitinib) for the qualitative detection of 42 defined mutations of the EGFR gene in
exons 18-21, including L858R,
exon 19 deletions and T790M mutations.
In
exon 2, two transversions, g C356090A and g G356330C and one transition g C356113T were observed.
The SNP in the
exon 3 of the LEP gene was detected by amplification of the 494 bp region using specific primers and cleavage with the BcnI enzyme.
The most common alteration (10/25) was
exon 18-19 deletion (Table 4) (Figure 1).
