Molekulargenetik

Erkrankungen Gene

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Anforderungsbeleg

AFB Molekulargenetik

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Spinale Muskelatrophie – adult

AARS, AR, ATP7A, BSCL2, DCTN1, DNAJB2, GARS1, HSPB1, HSPB3, HSPB8, REEP1, SETX, SLC5A7, SMN1, TRPV4, VAPB

Spinale Muskelatrophie – infantil

ASAH1, ASCC1, ATP7A, BICD2, DYNC1H1, EXOSC3, EXOSC8, IGHMBP2, PLEKHG5, SIGMAR1, SMN1, TRPV4, UBA1, VRK1

Spinale Muskelatrophie (SMA)

SMN1

Spinocerebelläre Ataxien (SCA1 / SCA2 / SCA3 / SCA6 / SCA7)

ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A