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