Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease.

Miyazaki, Jun

Intragenic duplication in the PKHD1 gene in autosomal recessive polycystic kidney disease. [electronic resource] - BMC medical genetics Oct 2015 - 98 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1471-2350

10.1186/s12881-015-0245-3 doi


Amniocentesis--methods
Exome
Female
Humans
Male
Mutation
Polycystic Kidney, Autosomal Recessive--diagnosis
Pregnancy
Receptors, Cell Surface--genetics
Sequence Analysis, DNA
Young Adult