TY  - GEN
AU  - Navarro,Claire L
AU  - Cadiñanos,Juan
AU  - De Sandre-Giovannoli,Annachiara
AU  - Bernard,Rafaëlle
AU  - Courrier,Sébastien
AU  - Boccaccio,Irène
AU  - Boyer,Amandine
AU  - Kleijer,Wim J
AU  - Wagner,Anja
AU  - Giuliano,Fabienne
AU  - Beemer,Frits A
AU  - Freije,Jose M
AU  - Cau,Pierre
AU  - Hennekam,Raoul C M
AU  - López-Otín,Carlos
AU  - Badens,Catherine
AU  - Lévy,Nicolas
TI  - Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors
SN  - 0964-6906
PY  - 2005///1128
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Base Sequence
KW  - Codon, Terminator
KW  - DNA Primers
KW  - Genes, Recessive
KW  - Humans
KW  - Immunohistochemistry
KW  - Infant, Newborn
KW  - Lamin Type A
KW  - Lipoproteins
KW  - Membrane Proteins
KW  - Metalloendopeptidases
KW  - Metalloproteases
KW  - Mutation
KW  - Nuclear Proteins
KW  - metabolism
KW  - Polymerase Chain Reaction
KW  - Protein Precursors
KW  - Skin Diseases
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddi159
ER  -