A novel LEMD3 mutation common to patients with osteopoikilosis with and without melorheostosis

Calcified Tissue International

Volumn 81, Issue 2, 2007, Pages 81-84

  Couto, Ana R ^a   Bruges Armas, Jacome ^a   Peach, Chris A ^b   Chapman, Kay ^b   Brown, Matthew A ^b,c   Wordsworth, B Paul ^b   Zhang, Yun ^b  

^a Hospital Santo Espirito de Angra do Heroesmo   (Portugal)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

Buschke Ollendorff; Hyperostosis; Inner nuclear membrane protein; MAN1

Indexed keywords

COMPLEMENTARY DNA;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD ANALYSIS; CAUCASIAN; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; HUMAN; IRELAND; LEMD3 GENE; MALE; OSTEOSCLEROSIS; PRIORITY JOURNAL; RACE DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM;

ADULT; AZORES; BASE SEQUENCE; BONE AND BONES; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; GENOTYPE; HETEROZYGOTE; HUMANS; IRELAND; MALE; MELORHEOSTOSIS; MEMBRANE PROTEINS; MUTATION; NUCLEAR PROTEINS; OSTEOPOIKILOSIS; PEDIGREE;

EID: 34547781837     PISSN: 0171967X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00223-007-9043-z     Document Type: Article

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