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Predictably, mutations in ciliary genes cause a wide range of human diseases such as male infertility and blindness.
To investigate whether genetic polymorphisms in the resistin and adiponectin genes cause a predisposition towards polycystic ovary syndrome (PCOS) in a South Indian women population.
Mutations in mitochondrial genes cause a range of disorders, some mild and others life-threatening.
Mutations in each of the genes cause a mild sensitivity to DNA damage or DNA replication block.
Defects in AlaRS lead to misfolded proteins, accumulation of vacuoles, and cerebellar Purkinje cell loss in the sticky mutant mouse [19], and mutations in tRNA synthetase genes cause a number of heritable human diseases (reviewed in [20]).
Mutations in these genes cause a spectrum of CMD phenotypes.
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The cobU and cobS genes caused a slight increase in the production of vitamin B12.
Hereditary spastic paraplegia (HSP), characterized by relatively selective axonal degeneration, is a genetically heterogeneous condition, with more than 50 genes causing a similar neurologic phenotype.
RNAi of their corresponding genes caused a lethal phenotype or cuticle abnormality.
Therefore, in both mouse and zebrafish, depletion of Popdc genes causes a muscle defect.
Recombination of these incomplete cDNA molecules with genes causes a preferential loss of introns at the 3' sides of genes.
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