TY  - GEN
AU  - Jouary,Thomas
AU  - Goizet,Cyril
AU  - Coupry,Isabelle
AU  - Redonnet-Vernhet,Isabelle
AU  - Levade,Thierry
AU  - Burgelin,Ingrid
AU  - Toutain,Annick
AU  - Delaporte,Emmanuel
AU  - Douillard,Claire
AU  - Lacombe,Didier
AU  - Taieb,Alain
AU  - Arveiler,Benoît
TI  - Detection of an intragenic deletion expands the spectrum of CTSC mutations in Papillon-Lefèvre syndrome
SN  - 1523-1747
PY  - 2008///0219
KW  - Adult
KW  - Cathepsin C
KW  - genetics
KW  - Child, Preschool
KW  - DNA Mutational Analysis
KW  - Family Health
KW  - Female
KW  - Gene Deletion
KW  - Gene Dosage
KW  - Genetic Testing
KW  - Humans
KW  - Male
KW  - Papillon-Lefevre Disease
KW  - diagnosis
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/sj.jid.5700987
ER  -