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
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.