Mutations in the gene encoding the latency-associated peptide of TGF-β1 cause Camurati-Engelmann disease

Nature Genetics

Volumn 26, Issue 3, 2000, Pages 273-275

  Janssens, Katrien ^a   Gershoni Baruch, Ruth ^b   Guãabens, Nuria ^c   Migone, Nicola ^d   Ralston, Stuart ^e   Bonduelle, Maryse ^f   Lissens, Willy ^f   Van Maldergem, Lionel ^g   Vanhoenacker, Filip ^h   Verbruggen, Leon ^f   Van Hul, Wim ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b RAMBAM MEDICAL CENTER   (Israel)

^c HOSPITAL CLÍNIC   (Spain)

^d UNIVERSITY OF TURIN   (Italy)

^e UNIVERSITY OF ABERDEEN   (United Kingdom)

^f UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^g INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^h ANTWERP UNIVERSITY HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DYSPLASIA; BONE REMODELING; CHROMOSOME 19Q; DNA DETERMINATION; GOLGI COMPLEX; HUMAN; MISSENSE MUTATION; OPEN READING FRAME; OSTEOLYSIS; OSTEOSCLEROSIS; PRIORITY JOURNAL;

BONE REMODELING; CAMURATI-ENGELMANN SYNDROME; CHROMOSOMES, HUMAN, PAIR 19; DNA MUTATIONAL ANALYSIS; GENES, DOMINANT; HUMANS; OSTEOGENESIS; PEPTIDE FRAGMENTS; PROTEIN PRECURSORS; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTEIN SORTING SIGNALS; PROTEIN TRANSPORT; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1;

EID: 0033763317     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/81563     Document Type: Article

References (16)