The compound heterozygous missense mutations were in exon
7 and 9 of WDR62 gene in both affected individuals where c.797C>T, p.(Ala266Val) and c.1102G>A, p.(Asp368Asn).Two rare, missense variants were detected in compound heterozygous state in the WDR62 gene of two affected patient with primary microcephaly.
Aberrant transcription of the LHCGR gene caused by a mutation in exon
6A leads to Leydig cell hypoplasia type II.
found an A/C mutation in the GnRHR exon
1 of Huanghuai goat and Boer goat and determined that the litter size of Huanghuai goats with the BB genotype is grearter than that of the AA genotype (Pa$?0.05) (Zhang YJ et al.
Within the exons
of KCNE1, it is known that the last exon
, where we found 653 C/T SNPs, participates in encoding protein Mink; thus, 653 C/T SNPs are the coding SNPs (cSNPs).
But erysipelas like erythema (ELE), arthritis, amyloidosis, and a family history of FMF were more common in patients with only exon
10 mutations (p<0.05) (Table 2).
The mutation results in the substitution of proline for alanine in exon
3 of PAX9 gene.
RsaI, on the other hand, receptor and none of the miss-located within the DBD is known to have 9 cleavage sites along the entire wild type hAR sequence; one of them is located in the third exon
. Similar to BbvI, RasI showed a single abnormal pattern with lower prevalence (0%, 0%, 9% and 28.6%) in different groups, following the same order (Figure 4).
Investigators have identified more than nine mutations in exon
3 of NLRP3 in patients with FCAS, which is characterized by periodic attacks of an urticaria-like rash, fever, conjunctivitis, and arthralgia.
SSCP variants of pattern 2 of exon
1+pattern 2 of exon
2+pattern 1 of exon
3 had highly significant (p<0.01) effect on LH concentrations.
(2010) also detected two mutations in the 5' regulatory region of ovine IGF1 gene (G855C and G857A) and one mutation (C271T) in exon
In our study, exon
18-19 deletion was the most common rearrangement and all mutation carriers were born and lived in the Black Sea region.
We surveyed 170 participating clinical laboratories from 20 countries regarding the number of clinical samples tested for EGFR mutations in a 12-month period (March 2013-March 2014); the number of cases with activating mutations in exons
18, 19, 20, and 21 (specifically L858R and L861Q); and the number of cases with the resistance mutations S768I and T790M in exon