A novel splice mutation in PLS3 causes X-linked early onset low-turnover osteoporosis

Journal of Bone and Mineral Research

Volumn 30, Issue 3, 2015, Pages 437-445

  Laine, Christine M ^a,b   Wessman, Maija ^a   Toiviainen Salo, Sanna ^c   Kaunisto, Mari A ^a   Mäyränpää, Mervi K ^c,d   Laine, Tero ^b   Pekkinen, Minna ^a   Kröger, Heikki ^e   Välimäki, Ville Valtteri ^a   Välimäki, Matti J ^c   Lehesjoki, Anna Elina ^a,f   Mäkitie, Outi ^a,d,g,h  

^a UNIVERSITY OF HELSINKI   (Finland)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^d UNIVERSITY OF HELSINKI AND HELSINKI UNIVERSITY HOSPITAL   (Finland)

^e KUOPIO UNIVERSITY HOSPITAL   (Finland)

^f UNIVERSITY OF HELSINKI   (Finland)

^g KAROLINSKA INSTITUTE   (Sweden)

^h KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

Biochemical markers of bone turnover; Bone histomorphometry; Cells of bone; Genetic research; Osteoporosis

Indexed keywords

ACTIN BINDING PROTEIN; CALCIUM BINDING PROTEIN; COMPLEMENTARY DNA; MEMBRANE PROTEIN; PLASTIN;

ADOLESCENT; ADULT; ADULTHOOD; AGED; AMINO TERMINAL SEQUENCE; ARTICLE; BODY HEIGHT; BONE DENSITY; BONE MINERALIZATION; BONE TURNOVER; CHILD; CHROMOSOME MUTATION; CHROMOSOME XQ; CLINICAL ARTICLE; COMPRESSION FRACTURE; CONTROLLED STUDY; DNA SEQUENCE; EXON; FAMILIAL DISEASE; FEMALE; FRAGILITY FRACTURE; FRAMESHIFT MUTATION; GENE; GENE INSERTION; GENE MUTATION; HUMAN; HUMAN TISSUE; IDIOPATHIC OSTEOPOROSIS; INTRON; JUVENILE OSTEOPOROSIS; MALE; MIDDLE AGED; NUCLEIC ACID BASE SUBSTITUTION; ONSET AGE; OSSIFICATION; OSTEOID; OSTEOLYSIS; OSTEOMETRY; PHENOTYPE; PHENOTYPIC VARIATION; PLASTIN 3 GENE; PROTEIN MOTIF; RNA SPLICING; RNA TRANSLATION; SANGER SEQUENCING; SCHOOL CHILD; SEQUENCE ANALYSIS; SEX DIFFERENCE; SPINE FRACTURE; TRANSCRIPTION TERMINATION; WHOLE EXOME SEQUENCING; X CHROMOSOMAL INHERITANCE; GENETICS; MUTATION; OSTEOPOROSIS; PEDIGREE; X CHROMOSOME LINKED DISORDER; YOUNG ADULT;

ADOLESCENT; ADULT; AGED; CHILD; FEMALE; GENETIC DISEASES, X-LINKED; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; OSTEOPOROSIS; PEDIGREE; RNA SPLICING; YOUNG ADULT;

EID: 84922845289     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2355     Document Type: Article

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