Therefore, we stratified the single group analyses, including only the propositus of each family. |
This variant was named Hb Gorwihl after the city where the propositus lived. |
The propositus was an elderly man who passed on the disorder to three of his four children and 9 of 14 grandchildren. |
Mutations were checked against parental DNA for each propositus. |
A low cobalamin concentration had been noted several years earlier in the 57-year-old propositus, for which she received intermittent cobalamin injections. |
Key relatives included siblings, parents, offspring, grandparents, first uncles and aunts, and the propositus. |