Significats de biallelic mutations en anglès

Similar findings were observed when limited to participants with biallelic mutations.

Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals.

The defect in the enzymatic activity is due to biallelic mutations in the UROD gene.

BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene.

Background and aims: Clinical syndromes associated with biallelic mutations of bile acid (BA) transporters usually present in childhood.

Heterozygous mutations in PMS2 are involved in Lynch syndrome, whereas biallelic mutations are found in Constitutional mismatch repair-deficiency syndrome patients.

Exome sequencing in five individuals from two unrelated families presenting with dilated cardiomyopathy revealed biallelic mutations in PPCS, linking CoA synthesis with a cardiac phenotype.

Here we show that cell lines derived from FA-B and FA-D1 patients have biallelic mutations in BRCA2 and express truncated BRCA2 proteins.

We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them.

Further supporting the UNC80 mutations as causative of these siblings' disorder, biallelic mutations in UNC80 have recently been described among individuals with an overlapping phenotype.

Biallelic mutations in this gene are associated with recessively inherited familial colorectal cancer.

Introduction: Biallelic mutations in WNT1 can give rise to a rare form of moderate to severe OI.