Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

A D'Amico; M Niceta; B Udd; A Ferlini; M Tartaglia; E Bertini; F Fattori; G Tasca; S Petrini; F Gualandi; A Bruselles; V D'Oria; M Verardo; R Carrozzo

doi:10.1016/j.ejpn.2017.07.009

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

A D'Amico, M Niceta, B Udd, A Ferlini, M Tartaglia, E Bertini, F Fattori, G Tasca, S Petrini, F Gualandi, A Bruselles, V D'Oria, M Verardo, R Carrozzo

Research output: Contribution to journal › Article › Scientific › peer-review

7 Citations (Scopus)

Original language	English
Pages (from-to)	873-883
Journal	EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Volume	21
Issue number	6
DOIs	https://doi.org/10.1016/j.ejpn.2017.07.009
Publication status	Published - 2017
Publication type	A1 Journal article-refereed

Keywords

COL6-RD
Collagen 6
Mosaicism
NGS
Ullrich congenital muscular dystrophy

Publication forum classification

Publication forum level 1

Access to Document

10.1016/j.ejpn.2017.07.009

Cite this

D'Amico, A., Niceta, M., Udd, B., Ferlini, A., Tartaglia, M., Bertini, E., Fattori, F., Tasca, G., Petrini, S., Gualandi, F., Bruselles, A., D'Oria, V., Verardo, M., & Carrozzo, R. (2017). Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 21(6), 873-883. https://doi.org/10.1016/j.ejpn.2017.07.009

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title = "Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders",

keywords = "COL6-RD, Collagen 6, Mosaicism, NGS, Ullrich congenital muscular dystrophy, COL6-RD, Collagen 6, Mosaicism, NGS, Ullrich congenital muscular dystrophy",

author = "A D'Amico and M Niceta and B Udd and A Ferlini and M Tartaglia and E Bertini and F Fattori and G Tasca and S Petrini and F Gualandi and A Bruselles and V D'Oria and M Verardo and R Carrozzo",

year = "2017",

doi = "10.1016/j.ejpn.2017.07.009",

language = "English",

volume = "21",

pages = "873--883",

journal = "EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY",

issn = "1090-3798",

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D'Amico, A, Niceta, M, Udd, B, Ferlini, A, Tartaglia, M, Bertini, E, Fattori, F, Tasca, G, Petrini, S, Gualandi, F, Bruselles, A, D'Oria, V, Verardo, M & Carrozzo, R 2017, 'Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders', EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, vol. 21, no. 6, pp. 873-883. https://doi.org/10.1016/j.ejpn.2017.07.009

TY - JOUR

T1 - Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders

AU - D'Amico, A

AU - Niceta, M

AU - Udd, B

AU - Ferlini, A

AU - Tartaglia, M

AU - Bertini, E

AU - Fattori, F

AU - Tasca, G

AU - Petrini, S

AU - Gualandi, F

AU - Bruselles, A

AU - D'Oria, V

AU - Verardo, M

AU - Carrozzo, R

PY - 2017

Y1 - 2017

KW - COL6-RD

KW - Collagen 6

KW - Mosaicism

KW - NGS

KW - Ullrich congenital muscular dystrophy

KW - COL6-RD

KW - Collagen 6

KW - Mosaicism

KW - NGS

KW - Ullrich congenital muscular dystrophy

U2 - 10.1016/j.ejpn.2017.07.009

DO - 10.1016/j.ejpn.2017.07.009

M3 - Article

SN - 1090-3798

VL - 21

SP - 873

EP - 883

JO - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

JF - EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

IS - 6

ER -