TY  - GEN
AU  - De Sandre-Giovannoli,Annachiara
AU  - Chaouch,Malika
AU  - Kozlov,Serguei
AU  - Vallat,Jean-Michel
AU  - Tazir,Meriem
AU  - Kassouri,Nadia
AU  - Szepetowski,Pierre
AU  - Hammadouche,Tarik
AU  - Vandenberghe,Antoon
AU  - Stewart,Colin L
AU  - Grid,Djamel
AU  - Lévy,Nicolas
TI  - Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse
SN  - 0002-9297
PY  - 2002///0322
KW  - Algeria
KW  - Amino Acid Sequence
KW  - Animals
KW  - Arginine
KW  - genetics
KW  - Axons
KW  - pathology
KW  - Base Sequence
KW  - Charcot-Marie-Tooth Disease
KW  - classification
KW  - Consanguinity
KW  - Conserved Sequence
KW  - Electrophysiology
KW  - Exons
KW  - Female
KW  - Genes, Recessive
KW  - Homozygote
KW  - Humans
KW  - Lamin Type A
KW  - Lamins
KW  - Linkage Disequilibrium
KW  - Male
KW  - Mice
KW  - Mice, Knockout
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Nuclear Envelope
KW  - chemistry
KW  - Nuclear Proteins
KW  - analysis
KW  - Pedigree
KW  - Sciatic Nerve
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1086/339274
ER  -