Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Autosomal dominante Osteopetrose 1

Die autosomal dominante Osteopetrose 1 wird durch Mutationen im LRP5-Gen ausgelöst.

Gliederung

Osteopetrose
Autosomal dominante Osteopetrose 1
LRP5
Autosomal dominante Osteopetrose 2
Autosomal rezessive Osteopetrose 4
Autosomal rezessive Osteopetrose 7
Gemischte renale tubuläre Azidose 3 mit Osteopetrose 3

Referenzen:

1.

Van Wesenbeeck L et al. (2003) Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.

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2.

Bollerslev J et al. (1988) Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

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3.

Andersen PE et al. (1987) Heterogeneity of autosomal dominant osteopetrosis.

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4.

Bollerslev J et al. (1993) Autosomal dominant osteopetrosis.

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5.

Van Hul E et al. (2002) Localization of the gene causing autosomal dominant osteopetrosis type I to chromosome 11q12-13.

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6.

Janssens K et al. (2002) Molecular genetics of too much bone.

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7.

OMIM.ORG article

Omim 607634 [^]
Update: 10. Mai 2019