Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement

Journal of Bone and Mineral Research

Volumn 21, Issue 7, 2006, Pages 1098-1105

  Pangrazio, Alessandra ^a   Poliani, Pietro Luigi ^b   Megarbane, André ^c   Lefranc, Gérard ^d   Lanino, Edoardo ^e   Di Rocco, Maja ^e   Rucci, Francesca ^a   Lucchini, Franco ^f   Ravanini, Maria ^b   Facchetti, Fabio ^b   Abinun, Mario ^g   Vezzoni, Paolo ^a   Villa, Anna ^a   Frattini, Annalisa ^a  

^a INSTITUTE OF BIOMEDICAL TECHNOLOGIES   (Italy)

^b UNIVERSITY OF BRESCIA   (Italy)

^c Campus des Sciences Médicales   (Lebanon)

^d CNRS and University Montpellier II   (France)

^e G GASLINI INSTITUTE   (Italy)

^f UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

^g NEWCASTLE GENERAL HOSPITAL   (United Kingdom)

Author keywords

Grey lethal mouse model; Myelin defect; Neural defect; Osteopetrosis; OSTM1

Indexed keywords

MYELIN;

ANEMIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE OSTEOPOROSIS; BRAIN ATROPHY; CENTRAL NERVOUS SYSTEM DISEASE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; CORTICAL DYSPLASIA; DEMYELINATING DISEASE; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FUNCTION; GROWTH DISORDER; HOMOZYGOSITY; KUWAIT; LEBANON; MOUSE; MOUSE MUTANT; NEUROLOGIC DISEASE; NONHUMAN; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; OPTIC NERVE ATROPHY; OSTEOPOROSIS; OSTEOSCLEROSIS; OSTM1 GENE; PATHOGENESIS; POINT MUTATION; PROGNOSIS; THROMBOCYTOPENIA; VISUAL IMPAIRMENT;

ANIMALS; CEREBELLAR DISEASES; CODON, NONSENSE; DISEASE MODELS, ANIMAL; FRAMESHIFT MUTATION; GENETIC DISEASES, INBORN; HUMANS; MAGNETIC RESONANCE IMAGING; MEMBRANE PROTEINS; MICE; MICE, MUTANT STRAINS; OSTEOPETROSIS; TOMOGRAPHY, X-RAY COMPUTED; UBIQUITIN-PROTEIN LIGASES;

EID: 33745507483     PISSN: 08840431     EISSN: None     Source Type: Journal    
DOI: 10.1359/jbmr.060403     Document Type: Article

References (28)

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