Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephronophthise 6

Der Typ 6 der Nephronophthise ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CEP290 hervorgerufen wird.

Gliederung

Nephronophthise
Nephronophthise 1
Nephronophthise 10
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
CEP290
Nephronophthise 7
Nephronophthise 8
Nephronophthise 9

Referenzen:

1.

Sayer JA et. al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

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2.

Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

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