Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Meckel-Syndrom 3

Der Typ 3 des Meckel-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen TMEM67 hervorgerufen wird.

Gliederung

Meckel-Syndrom
Meckel-Syndrom 3
TMEM67
Meckel-Syndrom 5
Meckel-Syndrom 6

Referenzen:

1.

Consugar MB et. al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

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2.

Smith UM et. al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

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3.

Adams M et. al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.

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4.

Shaheen R et. al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

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5.

Nauta J et. al. (2000) New rat model that phenotypically resembles autosomal recessive polycystic kidney disease.

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6.

Morgan NV et. al. (2002) A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

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