Sentence examples for mutation causes recessive from inspiring English sources

Its mutation causes recessive early-onset PD [31].

PINK1 and Parkin mutations cause recessive Parkinson's disease (PD).

SP7 mutations cause recessive OI.

FKBP10 mutations cause recessive OI (progressively deforming).

To study the influence of the mode of inheritance on selection, we divided autosomal Mendelian disease genes into genes in which mutations cause recessive disorders and genes in which mutations cause dominant disorders.

Heterozygosity of TERC- and most TERT-mutations can lead to haploinsufficiency and to the clinical phenotype of dyskeratosis congenita, although some TERT mutations cause recessive DKC with heterozygous carriers showing normal blood counts [ 42].

We apply this workflow to sequence the protein-coding regions of 15 genes in which loss-of-function mutations cause recessive Mendelian disorders often included as part of routine carrier screening, and demonstrate through realistic simulation and comparison with Sanger sequencing data that our approach achieves high accuracies and detects the vast majority of disease-causing mutations.

Second, there is a possibility that nonsense mutations cause recessive lethal alleles that would not be detected as causative variant of diseases.

PLOD2 mutations also cause recessive OI.

BMP1 (bone morphogenetic protein 1) mutations also cause recessive OI.

To identify the mutation causing the recessive ste−/− mutant phenotype, we performed a genome-wide study of microsatellite marker segregation and linked ste to zebrafish chromosome 17.