Fujimoto, Masaya

Immunological profile in a family with nephrogenic diabetes insipidus with a novel 11 kb deletion in AVPR2 and ARHGAP4 genes. [electronic resource] - BMC medical genetics May 2008 - 42 p. digital

Publication Type: Case Reports; Journal Article

1471-2350

10.1186/1471-2350-9-42 doi


Adult
CD4 Lymphocyte Count
Diabetes Insipidus, Nephrogenic--genetics
Female
GTPase-Activating Proteins--genetics
Humans
Immunoglobulin G--blood
Infant, Newborn
Male
Mutation
Oligonucleotide Array Sequence Analysis
Pedigree
Physical Chromosome Mapping
Polymerase Chain Reaction
Receptors, Vasopressin--genetics
Sequence Deletion