Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Familiäre hypocalciurische Hypercalciämie Typ 1

Die familiäre hypocalciurische Hypercalciämie Typ 1 ist eine autosomal dominanter Erkrankung, die durch aktivitätsmindernde Mutationen im Calcium-sensing Rezeptor entstehen.

Gliederung

Renale Störungen der Calciumhomöostase
Familiäre hypocalciurische Hypercalciämie Typ 1
CASR
Familiäre hypocalciurische Hypercalciämie Typ 2
Familiäre hypocalciurische Hypercalciämie Typ 3
Hypophosphatasie
Infantile Hypercalciämie

Referenzen:

1.

Heath H et al. (1992) Genetic linkage analysis in familial benign hypercalcemia using a candidate gene strategy. I. Studies in four families.

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2.

Chikatsu N et al. (1999) An adult patient with severe hypercalcaemia and hypocalciuria due to a novel homozygous inactivating mutation of calcium-sensing receptor.

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3.

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4.

Chou YH et al. (1992) The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families.

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5.

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6.

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8.

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9.

Hannan FM et al. (2010) Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3.

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10.

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11.

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12.

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20.

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24.

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30.

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31.

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32.

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34.

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35.

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36.

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37.

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38.

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39.

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40.

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41.

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42.

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43.

Bai M et al. (1997) Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism.

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