exon

Sarepta announced Monday after the market close the FDA issued a complete response letter for its NDA seeking accelerated approval for golodirsen injection for treating Duchenne muscular dystrophy, or DMD, in patients with confirmed mutation amenable to exon 53 skipping.

Recently a compound heterozygous mutations c.731 C > T (p.Ser 244 Leu) and c.2413 G > T (p.Glu 805 X) in the WDR62 gene responsible for the mitotic centrosomal protein WDR62, in a microcephaly family from Japanese.3 We have also reported in our recent study a missense mutation in exon 30 of WDR62changing alanine to aspartate in the protein leading to the typical MCPH2 phenotype.4 Whereas new homozygous splicing variantc.3335+1G>C in the WDR62 gene also reported recently.5 Previously pathogenic mutations reported in WDR62 include missense (e.g.

Blueprint Medicines announced data from the registration-enabling NAVIGATOR trial of avapritinib in patients with PDGFRA Exon 18 mutant gastrointestinal stromal tumors and fourth-line GIST.

The capture library was prepared using SureSelect Human All Exon V6 kit (Agilent Technologies Inc., Santa Clara, CA, US) following the manufacturer's protocol.

Erlotinib Tablets are a kinase inhibitor 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.

found a SNP locus in the GnRHR gene exon 1 of the Jining Grey goat, which has AA, AB and BB three genotypes, and found that the average litter size of the Jining Grey goats with the BB genotype was larger than that of goats with the AA and AB genotypes (Chu MX et al.

According to cDNA library and existing research reports, we designed and synthesized the primers of KCNE1 and KCNE3 genes based on the KCNE1 and KCNE3 exon's gene sequence.

Most of the identified mutations, including M694V, M680I, M694I, and V726A, are located on exon 10, whereas some mutations such as E148Q and R202Q are located on exon 2 (1).

Patients Amino acid change Affected gene region WDST1 p.V2936 * Exon 27 WDST2 p.L2756 * Exon 27 WDST3 p.S2305Lfs * 2 Exon 27 WDST5 p.R2382 * Exon 27 WDST6 p.K1534 * Exon 13 Patient 1 p.C1448R Exon 11 Patient 2 c.4086+1G>A Intron 8 chr11:118,339,487-118,355,089del Exon 2 to 10 P1 p.G2422 * Exon 27 P8 p.E3448fs * 7 Exon 27 p.R2127 * Exon 26 Twin 1 p.R1083 * Exon 4 Twin 2 p.R1083 * Exon 4 p.R1636 * Exon 15 Patient 1 p.R2480 * Exon 27 Patient 2 p.Q2261 * Exon 27 Patient 3 p.C1189Y Exon 5 Patient 4 p.Pro280Thr Exon 3 Patient 5 p.V347Lfs * 53 Exon 3 Patient 6 p.L717Cfs * 39 Exon 3 CdLS 3 p.R745 * Exon 3 p.C1161G Exon 5 A.II-5 p.Q2803 * Exon 27 B.II-1 p.Q819 * Exon 3 p.

The sequencing of coding exons and splice sites of PAX9 gene showed a homozygous missense mutation in exon number 3 (c.