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Epigenetic regulations are likely to be essential as well, as recently suggested by the discovery that the tomato Cnr (Colour non-ripening) mutation (characterized by abolishment of fruit ripening) was caused by the hypermethylation of part of the promoter region.

Fibrinogen Caracas V is a thrombotic dysfibrinogenemia with an Aα 532 Ser→Cys mutation characterized by a tight fibrin network formed of thin fibers responsible for a less porous clot than a normal one.

To investigate the nature of the mutant SOD1, we have studied a SOD1 mutation characterized by a 2-bp deletion at codon 126 (SOD1Leu126delTT) [5], [6].

MUTYH-associated polyposis (MAP) is a disorder caused by bi-allelic germline MUTYH mutation, characterized by multiple colorectal adenomas.

This study reports the second patient carrying the m.3890G>A/ MT- ND1 mutation, characterized by a complex I defect in muscle and LHON-like severe optic atrophy associated with bilateral brainstem lesions.

Microglial activation in the spinal cord of the jp (jimpy) mouse, a mouse with a Plp1 missense mutation, characterized by its severe hypomyelination has been described (Vela et al., 1995).

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In humans, eight distinct leptin mutations characterized by undetectable to low serum leptin levels have been identified so far.

Adaptative immune responses may be impaired in several ways, including the natural mutations characterized by blocks in T cell development that have been described in mice and humans.

MAP is a disorder caused by bi-allelic germline MUTYH mutations, characterized by multiple colorectal adenomas.

In addition, a myo1Δgcn2Δ mutant exhibited a negative genetic interaction between these mutations characterized by an abnormal morphological phenotype and a severe growth defect.

Moreover, the nature of p53 mutations also differ between subtypes, with basal-like BrCa and apocrine cancers having complex p53 mutations characterized by 'insertion/deletion polymorphisms', whereas luminal tumors are generally simpler base substitutions.

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