Sentence examples for mutations cause recessive from inspiring English sources

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

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

SP7 mutations cause recessive OI.

FKBP10 mutations cause recessive OI (progressively deforming).

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].

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.

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

Mutations cause autosomal recessive nemaline myopathy, distal nebulin myopathy and core-rod myopathy, for which no therapy is available.

Mutations cause autosomal recessive nemaline myopathy, distal myopathy and core-rod myopathy, for which no therapy is available.

SERPINH1 mutations cause severe recessive OI.

In summary, the identification of a homozygous 2347 bp genomic deletion in AMBN identifies for the first time that AMBN mutations cause autosomal recessive hypoplastic human AI.