Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3.

Knebel, Birgit

Divergent phenotypes in siblings with identical novel mutations in the HNF-1α gene leading to maturity onset diabetes of the young type 3. [electronic resource] - BMC medical genetics May 2016 - 36 p. digital

Publication Type: Case Reports; Journal Article

1471-2350

10.1186/s12881-016-0297-z doi


Adult
Diabetes Mellitus, Type 2--genetics
Female
Genetic Predisposition to Disease
Hepatocyte Nuclear Factor 1-alpha--genetics
Heterozygote
Humans
INDEL Mutation
Male
Mutation, Missense
Pedigree
Phenotype
Sequence Analysis, DNA--methods