Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis

Massimo Santoro; Marcella Masciullo; Gabriella Silvestri; Giuseppe Novelli; Anna Botta

doi:10.1111/cge.12954

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis

Massimo Santoro^*
, Marcella Masciullo
, Gabriella Silvestri
, Giuseppe Novelli
, Anna Botta

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo

28 Citazioni (Scopus)

Abstract

.

Lingua originale	Inglese
pagine (da-a)	N/A-N/A
Rivista	Clinical Genetics
Volume	2016
Numero di pubblicazione	December
DOI	https://doi.org/10.1111/cge.12954
Stato di pubblicazione	Pubblicato - 2016

All Science Journal Classification (ASJC) codes

Genetica
Genetica (clinica)

Keywords

Myotonic dystrophy type 1
dystrophia myotonica protein kinase
epigenetics
triplet interruptions

Accesso al documento

10.1111/cge.12954

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title = "Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis",

abstract = ".",

keywords = "Myotonic dystrophy type 1, dystrophia myotonica protein kinase, epigenetics, triplet interruptions, Myotonic dystrophy type 1, dystrophia myotonica protein kinase, epigenetics, triplet interruptions",

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AU - Masciullo, Marcella

AU - Silvestri, Gabriella

AU - Novelli, Giuseppe

AU - Botta, Anna

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KW - triplet interruptions

KW - Myotonic dystrophy type 1

KW - dystrophia myotonica protein kinase

KW - epigenetics

KW - triplet interruptions

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Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Accesso al documento

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