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SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion

Publication ,  Conference
Pippucci, T; Del Dotto, V; Di Meo, I; Magini, P; Gusic, M; Maresca, A; Caporali, L; Palombo, F; Tagliavini, F; Baugh, EH; La Morgia, C ...
Published in: EUROPEAN JOURNAL OF HUMAN GENETICS
October 1, 2019

Duke Scholars

Published In

EUROPEAN JOURNAL OF HUMAN GENETICS

EISSN

1476-5438

ISSN

1018-4813

Publication Date

October 1, 2019

Volume

27

Start / End Page

1162 / 1163

Location

Gothenburg, SWEDEN

Publisher

NATURE PUBLISHING GROUP

Conference Name

52nd Conference of the European-Society-of-Human-Genetics (ESHG)

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics
 

Citation

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Chicago
ICMJE
MLA
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Pippucci, T., Del Dotto, V., Di Meo, I., Magini, P., Gusic, M., Maresca, A., … Carelli, V. (2019). SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion. In EUROPEAN JOURNAL OF HUMAN GENETICS (Vol. 27, pp. 1162–1163). Gothenburg, SWEDEN: NATURE PUBLISHING GROUP.
Pippucci, T., V. Del Dotto, I. Di Meo, P. Magini, M. Gusic, A. Maresca, L. Caporali, et al. “SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion.” In EUROPEAN JOURNAL OF HUMAN GENETICS, 27:1162–63. NATURE PUBLISHING GROUP, 2019.
Pippucci T, Del Dotto V, Di Meo I, Magini P, Gusic M, Maresca A, et al. SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion. In: EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 1162–3.
Pippucci, T., et al. “SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion.” EUROPEAN JOURNAL OF HUMAN GENETICS, vol. 27, NATURE PUBLISHING GROUP, 2019, pp. 1162–63.
Pippucci T, Del Dotto V, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, Bertini E, Carrozzo R, Emma F, Cutcutache I, Armstrong M, Page M, Stong N, Davies E, Karall D, Boesch S, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Carelli V. SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion. EUROPEAN JOURNAL OF HUMAN GENETICS. NATURE PUBLISHING GROUP; 2019. p. 1162–1163.

Published In

EUROPEAN JOURNAL OF HUMAN GENETICS

EISSN

1476-5438

ISSN

1018-4813

Publication Date

October 1, 2019

Volume

27

Start / End Page

1162 / 1163

Location

Gothenburg, SWEDEN

Publisher

NATURE PUBLISHING GROUP

Conference Name

52nd Conference of the European-Society-of-Human-Genetics (ESHG)

Related Subject Headings

  • Genetics & Heredity
  • 3202 Clinical sciences
  • 3105 Genetics