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ATP-Bindungskassette, Unterfamilie C (CFTR/MRP), Glied 6

Das ABCC6-gen kodiert einen ATP-abhängigen Transporter der an verschiedenen extra- und intrazellulären Membranen zu finden ist. Mutationen verursachen die autosomal rezessive generalisierte arterielle Verkalkung bei Kleinkindern 2.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Generalisierte arterielle Verkalkung bei Kleinkindern 2
ABCC6

Referenzen:

1.

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2.

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3.

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46.

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53.

NCBI article

NCBI 368 external link
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OMIM.ORG article

Omim 603234 external link
55.

Orphanet article

Orphanet ID 117658 external link
Update: 14. August 2020
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