Loss-of-function mutations in LEMD3 result in osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis

Nature Genetics

Volumn 36, Issue 11, 2004, Pages 1213-1218

  Hellemans, Jan ^a   Preobrazhenska, Olena ^b   Willaert, Andy ^a   Debeer, Philippe ^c   Verdonk, Peter C M ^a   Costa, Teresa ^d   Janssens, Katrien ^e   Menten, Bjorn ^a   Van Roy, Nadine ^a   Vermeulen, Stefan J T ^a   Savarirayan, Ravi ^f   Van Hu, Wim ^e   Vanhoenacker, Filip ^e   Huylebroeck, Danny ^b   De Paepe, Anne ^a   Naeyaert, Jean Marie ^a   Vandesompele, Jo ^a   Speleman, Frank ^a   Verschueren, Kristin ^b   Coucke, Paul J ^a   Mortier, Geert R ^a   more..

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^c UNIVERSITY OF LEUVEN   (Belgium)

^d UNIVERSITY OF MONTREAL   (Canada)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVIN; NUCLEAR PROTEIN; PROTEIN LEMD3; UNCLASSIFIED DRUG; MAN1 PROTEIN, HUMAN; MEMBRANE PROTEIN;

ALLELE; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BONE DENSITY; BUSCHKE OLLENDORFF SYNDROME; EMBRYO DEVELOPMENT; HUMAN; HUMAN CELL; LINKAGE ANALYSIS; MUTATION; OSTEOSCLEROSIS; PRIORITY JOURNAL; PROTEIN INTERACTION; SOMATIC MUTATION; CASE REPORT; CHROMOSOME 12; CHROMOSOME MAP; FEMALE; GENETICS; HAPLOTYPE; MALE; MOLECULAR GENETICS; NEVUS; NUCLEOTIDE SEQUENCE; PEDIGREE; SYNDROME;

XENOPUS LAEVIS;

BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; HAPLOTYPES; HUMANS; MALE; MELORHEOSTOSIS; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NEVUS; NUCLEAR PROTEINS; OSTEOPOIKILOSIS; PEDIGREE; SYNDROME;

EID: 13544274478     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1453     Document Type: Article

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