Our results supported the previously published findings reporting an association between the GSTM1 null mutation
and endometriosis (23,34).
The type of LDLR gene mutation was coded by use of 2 dummy categorical variables: null mutations
vs missense mutations (1 for null mutations
, 0 for splicing mutations, 0 for missense mutations) and splicing mutations vs missense mutations (0 for null mutations
, 1 for splicing mutations, 0 for missense mutations).
The initial study carried out in 2000 found that FANCA individuals with homozygous null mutations
had a higher frequency of somatic anomalies than individuals with FANCC mutations, but a similar frequency to those with FANCG mutations.
They found 7 African Americans with null mutations
It is caused by null mutations
at WRN locus, which codes for a member of RecQ family of DNA helicases.
Residual guanosine 3', 5'-bispyrophosphate synthetic activity of relA null mutants can be eliminated by spoT null mutations
pylori is caused by null mutations
in the rdxA gene and less frequently by mutations in frxA and fdxB genes.
in lin-14, for example, result in the activation of LIN-29 one stage too early, with the result that certain adult features are precociously expressed in larval stages.
sup] derived a global IV clinical severity score (0–15) by scoring each of five IV clinical signs (diffuse xerosis, hyperlinearity of palms, scales on legs, scalp desquamation, and keratosis pilaris) from 0 to 3 points and genotyping two common FLG null mutations
(R501X and 2282del4) for 110 Caucasian patients.
The authors analyzed the phenotype of mouse embryos harboring an atRA-sensitive reporter transgene or bearing null mutations
for atRA-syntbesizing enzymes or atRA receptors after maternal exposure to either 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD) or atRA on gestation day 10.