1
In 12 members of the family, the same mutation was found.
2
We subsequently identified the same mutation in another unrelated MLASA patient.
3
The grandmother of the proband was heterozygous for the same mutation.
4
The latter may differ between individuals carrying the same mutation.
5
Any male embryos (produced by IVF) will also have that same mutation.
6
In one case, the female fetus did carry the same mutation of the affected sister.
7
Neither parent carried the same mutation, indicating that the molecular change had occurred de novo.
8
The family history showed also VHL disease in the mother who carried the same mutation.
9
She was diagnosed with BHDS when the same mutation was confirmed in her germline lymphocytes.
10
Results: There were significant phenotype differences between patients with the same mutation and different genetic backgrounds.
11
A genetic analysis revealed that his sister also had succinate dehydrogenase deficiency with the same mutation.
12
Her father, carrying the same mutation, showed bifid uvula with a pit on his lower lip.
13
Surprisingly, the mother of our fetus carries the same mutation without having any signs of CDPX2.
14
The same mutation was present in the patient's father, who exhibited no extrahematological features of the disease.
15
Comparison of pairs of individuals with the same mutation indicates only partial overlap of their clinical phenotypes.
16
Homozygosity for the same mutation was found in all three patients despite non-consanguinity and variable Pacific Island origin.
