TY  - GEN
AU  - Konrad,M
AU  - Saunier,S
AU  - Heidet,L
AU  - Silbermann,F
AU  - Benessy,F
AU  - Calado,J
AU  - Le Paslier,D
AU  - Broyer,M
AU  - Gubler,M C
AU  - Antignac,C
TI  - Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis
SN  - 0964-6906
PY  - 1997///0113
KW  - Base Sequence
KW  - Blotting, Southern
KW  - Child
KW  - Chromosomes, Human, Pair 2
KW  - Consanguinity
KW  - Electrophoresis, Gel, Pulsed-Field
KW  - Female
KW  - Homozygote
KW  - Humans
KW  - Kidney Diseases
KW  - genetics
KW  - Kidney Diseases, Cystic
KW  - Kidney Medulla
KW  - Male
KW  - Molecular Sequence Data
KW  - Polymerase Chain Reaction
KW  - Restriction Mapping
KW  - Sequence Deletion
KW  - Telomere
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/5.3.367
ER  -