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
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