Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis.

Konrad, M

Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis. [electronic resource] - Human molecular genetics Mar 1996 - 367-71 p. digital

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

0964-6906

10.1093/hmg/5.3.367 doi


Base Sequence
Blotting, Southern
Child
Chromosomes, Human, Pair 2
Consanguinity
Electrophoresis, Gel, Pulsed-Field
Female
Homozygote
Humans
Kidney Diseases--genetics
Kidney Diseases, Cystic--genetics
Kidney Medulla
Male
Molecular Sequence Data
Polymerase Chain Reaction
Restriction Mapping
Sequence Deletion
Telomere