A novel mutation in the LRP5 gene is associated with osteoporosis- pseudoglioma syndrome

Osteoporosis International

Volumn 18, Issue 7, 2007, Pages 1017-1018

  Barros, E R ^a   Dias Da Silva, M R ^a   Kunii, I S ^a   Hauache, O M ^a   Lazaretti Castro, M ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 5;

AUTOSOMAL RECESSIVE DISORDER; DNA POLYMORPHISM; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; LETTER; LOW BACK PAIN; MISSENSE MUTATION; NORRIE DISEASE; OSTEOPOROSIS; OSTEOPOROSIS PSEUDOGLIOMA SYNDROME; PATHOGENESIS; PRIORITY JOURNAL; TIBIA FRACTURE; VERTEBRA FRACTURE;

ABNORMALITIES, MULTIPLE; CHILD; EYE ABNORMALITIES; GLIOMA; HUMANS; LDL-RECEPTOR RELATED PROTEINS; MALE; MUTATION, MISSENSE; OSTEOPOROSIS; SYNDROME;

EID: 34249985294     PISSN: 0937941X     EISSN: 14332965     Source Type: Journal    
DOI: 10.1007/s00198-007-0360-x     Document Type: Letter

References (3)

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2. Gong Y, Slee RB, Fukai N, Rawadi G, Roman-Roman S, Reginato AM et al (2001) LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell 107(4):513-523
3. Stone EA, Sidow A (2005) Physicochemical constraint violation by missense substitutions mediates impairment of protein function and disease severity. Genome Res 15(7):978-986