Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephronophthise 10

Der Typ 10 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen SDCCAG8 hervorgerufen wird.

Gliederung

Nephronophthise
Nephronophthise 1
Nephronophthise 10
SDCCAG8
Nephronophthise 11
Nephronophthise 12
Nephronophthise 13
Nephronophthise 14
Nephronophthise 15
Nephronophthise 16
Nephronophthise 17
Nephronophthise 18
Nephronophthise 19
Nephronophthise 2
Nephronophthise 3
Nephronophthise 4
Nephronophthise 5
Nephronophthise 6
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9

Referenzen:

1.

Chaki M et. al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

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2.

Otto EA et. al. (2010) Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.

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3.

Billingsley G et. al. (2012) Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

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