Mutazioni E Malattie Flashcards by Riccardo Crovetti | Brainscape

Q

Neurofibromatosi

A

17q11-13

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Q

Huntington

A

4p16.3

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Q

X fragile

A

FMR1
Xq27.3

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Q

Friedreich

A

FRDA
9q13

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Q

Edward

A

18

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Q

Patau

A

13

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Q

Prader Willi Angelman

A

15q11

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Q

Fibrosi cistica

A

7q31.2

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Q

Digeorge

A

TBX1
22q11-13

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Q

Fenilalanina idrossilasi

A

12q23.2

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Q

BRCA1

A

17

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Q

BRCA2

A

13

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Q

ACP

A

5

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Q

MSH2 MLH1 che malattia portano questi geni se mutati

A

Lynch

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Q

Sclerosi tuberosa geni

A

TSC 1,2

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Q

Albinismo geni

A

OCA
OA

Q

Sindrome di Rett

A

MECP2