Sentence examples for mutation were diagnosed from inspiring English sources

Patients with an HNF4A mutation were diagnosed with HH within the first week of life (data available for 10/11 patients).

In contrast to patients with a HNF4A or KATP channel mutation, patients with a GLUD1/HADH mutation were diagnosed later and were of normal birth weight.

Among the case subjects with prostate cancer, those who carried a mutation were diagnosed on average at 67 years (range 49 90 years) compared with 65 years for the case subjects without a mutation.

Early evidence suggested that females with GCK mutations frequently presented with GDM, as suggested by the observation that 7 of 11 parous women from two pedigrees with a specific GCK mutation were diagnosed with GDM [ 28, 29].

Notwithstanding, the stomach cancer cases were on the same transmitting lineage of the mutation, were diagnosed with disease under the age of 55 and it remains highly likely that they were gene carriers.

There were few significant differences between subgroups; men with a CHEK2 mutation were diagnosed with prostate cancer on average 1.4 years younger than non-carriers (67.5 vs 68.9; P=0.003).

Our patient with no PRKAR1A mutation was diagnosed with CNC at the age of 59 years old.

My father, from whom I inherited the gene mutation, was diagnosed with prostate cancer ten years before ultimately dying from liver cancer at the age of 67.

Only one case in our study (case 20, which harbored a somatically-acquired LKB1 mutation) was diagnosed as a minimal-deviation adenocarcinoma (MDA), a rare, extremely well-differentiated variant of cervical adenocarcinoma associated with Peutz-Jeghers Syndrome [18].

The proband carrying the Q775X mutation was diagnosed with invasive ductal breast cancer at age 54.

The second German PALB2 mutation carrier, heterozygous for the c.509_510delGA frameshift mutation, was diagnosed with synchronous bilateral disease at the age of 63 years.