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A human deletion mutation lacking the fourth DM14 and the adjacent C2 domain results in Non Syndromic Intellectual Disability (NSID) also referred to as Non Syndromic Mental Retardation (NSMR).
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The H19DMD-ΔR mutation lacks the four core binding sites of CTCF in the DMD region.
The plasma samples from all patients with congenital TTP, regardless of the mutation, lacked the ADAMTS13 band (Fig. 1c).
Patients with IL12B null mutations lack the IL-12p40 subunit, a shared component of both IL-12 and IL-23 [ 54].
Mice homozygous for a mutation (Brdt∆BD1/∆BD1) lacking the first bromodomain of Brdt, a testis-specific member of the BET family of double-bromodomain containing proteins, are sterile and exhibit profound defects in chromatin remodeling during spermiogenesis.
Yop51*Δ162, a PTP from Yersinia pestis having a C235R point mutation and lacking the N-terminal 162 amino acids that is catalytically equivalent to the full length protein, was overexpressed and purified as described previously.
More specifically, first we conducted two initial rounds of sorting that aimed at removing false-positive clones from the libraries (i.e., cells expressing randomized substrate genes containing stop codons and frame-shift mutations thereby lacking the degradation tag, ssrANY, or members where the reporter substrate could be processed by an endogenous protease).
The simulation started with a singly mutant cell lacking the second mutation needed to become fully Lac+.
Binding studies with the above resistant colonies showed that insects with the ABCC2 mutation lacked binding of Cry1Ab and Cry1Ac in the case of H. virescens and P. xylostella[ 20, 31].
Putative splicing variants require empirical confirmation based on expression studies from appropriate tissues carrying the mutation, compared with control samples lacking the mutation.
A relative fitness value >1 indicates the mutation is both resistant and beneficial relative to the isogenic strain lacking the mutation; values <1 indicate the resistant mutation is costly.
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