Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria

F Tort; Willy Lissens; J Montoya; M Fernandez-Burriel; M Del Toro; Ja Arranz; E Riudor; Paz Briones; A. Ribes

Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria

F Tort, Willy Lissens, J Montoya, M Fernandez-Burriel, M Del Toro, Ja Arranz, E Riudor, Paz Briones, A. Ribes

Department of Embryology and Genetics

Research output: Contribution to journal › Meeting abstract (Journal)

Abstract

ATP synthase defects are clinically characterized by

Original language	English
Pages (from-to)	78-78
Number of pages	1
Journal	Journal of Inherited Metabolic Disease
Volume	33 S1
Publication status	Published - 1 Aug 2010
Event	Finds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet - Stockholm, Sweden Duration: 21 Sep 2009 → 25 Sep 2009

Keywords

ATP synthese
TMEM70

Cite this

@article{674018fd0e9d4e6d8c6da0fae524eb71,

title = "Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria",

abstract = "ATP synthase defects are clinically characterized by",

keywords = "ATP synthese, TMEM70",

author = "F Tort and Willy Lissens and J Montoya and M Fernandez-Burriel and {Del Toro}, M and Ja Arranz and E Riudor and Paz Briones and A. Ribes",

year = "2010",

month = aug,

day = "1",

language = "English",

volume = "33 S1",

pages = "78--78",

journal = "Journal of Inherited Metabolic Disease",

issn = "0141-8955",

publisher = "Springer Netherlands",

note = "Finds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet ; Conference date: 21-09-2009 Through 25-09-2009",

}

Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria. / Tort, F; Lissens, Willy; Montoya, J; Fernandez-Burriel, M; Del Toro, M; Arranz, Ja; Riudor, E; Briones, Paz; Ribes, A.

In: Journal of Inherited Metabolic Disease, Vol. 33 S1, 01.08.2010, p. 78-78.

Research output: Contribution to journal › Meeting abstract (Journal)

TY - JOUR

T1 - Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria

AU - Tort, F

AU - Lissens, Willy

AU - Montoya, J

AU - Fernandez-Burriel, M

AU - Del Toro, M

AU - Arranz, Ja

AU - Riudor, E

AU - Briones, Paz

AU - Ribes, A.

PY - 2010/8/1

Y1 - 2010/8/1

N2 - ATP synthase defects are clinically characterized by

AB - ATP synthase defects are clinically characterized by

KW - ATP synthese

KW - TMEM70

M3 - Meeting abstract (Journal)

VL - 33 S1

SP - 78

EP - 78

JO - Journal of Inherited Metabolic Disease

JF - Journal of Inherited Metabolic Disease

SN - 0141-8955

T2 - Finds and Results from the Swedish Cyprus Expedition: A Gender Perspective at the Medelhavsmuseet

Y2 - 21 September 2009 through 25 September 2009

ER -

Genetic analysis in the ATP synthase assembly factors TMEM70 and ATP12 genes in patients with 3-methylglutoconic aciduria

Abstract

Keywords

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