Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Johannes A. Mayr; Olaf A. Bodamer; Tobias B Haack; Franz Zimmermann; Florence Madignier; Holger Prokisch; Christian Rauscher; Johannes Koch; Wolfgang Sperl

doi:10.1016/j.ymgme.2011.04.010

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Johannes A. Mayr^* (First author)
, Olaf A. Bodamer (Co-author)
, Tobias B Haack
, Franz Zimmermann
, Florence Madignier
, Holger Prokisch
, Christian Rauscher (Co-author)
, Johannes Koch (Co-author)
, Wolfgang Sperl (Last author)

^*Corresponding author for this work

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

18 Citations (Web of Science)

Original language	English
Pages (from-to)	358-361
Journal	MOLECULAR GENETICS AND METABOLISM
Volume	103
Issue number	4
DOIs	https://doi.org/10.1016/j.ymgme.2011.04.010
Publication status	Published - 2011

Keywords

LINKED GENE

Access to Document

10.1016/j.ymgme.2011.04.010

Cite this

Mayr, J. A., Bodamer, O. A., Haack, T. B., Zimmermann, F., Madignier, F., Prokisch, H., Rauscher, C., Koch, J., & Sperl, W. (2011). Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. MOLECULAR GENETICS AND METABOLISM , 103(4), 358-361. https://doi.org/10.1016/j.ymgme.2011.04.010

Mayr, Johannes A. ; Bodamer, Olaf A. ; Haack, Tobias B et al. / Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. In: MOLECULAR GENETICS AND METABOLISM 2011 ; Vol. 103, No. 4. pp. 358-361.

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title = "Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.",

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author = "Mayr, \{Johannes A.\} and Bodamer, \{Olaf A.\} and Haack, \{Tobias B\} and Franz Zimmermann and Florence Madignier and Holger Prokisch and Christian Rauscher and Johannes Koch and Wolfgang Sperl",

note = "Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria",

year = "2011",

doi = "10.1016/j.ymgme.2011.04.010",

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pages = "358--361",

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Mayr, JA, Bodamer, OA, Haack, TB, Zimmermann, F, Madignier, F, Prokisch, H, Rauscher, C , Koch, J & Sperl, W 2011, 'Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.', MOLECULAR GENETICS AND METABOLISM , vol. 103, no. 4, pp. 358-361. https://doi.org/10.1016/j.ymgme.2011.04.010

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. / Mayr, Johannes A. (First author); Bodamer, Olaf A. (Co-author); Haack, Tobias B et al.
In: MOLECULAR GENETICS AND METABOLISM , Vol. 103, No. 4, 2011, p. 358-361.

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

TY - JOUR

T1 - Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

AU - Mayr, Johannes A.

AU - Bodamer, Olaf A.

AU - Haack, Tobias B

AU - Zimmermann, Franz

AU - Madignier, Florence

AU - Prokisch, Holger

AU - Rauscher, Christian

AU - Koch, Johannes

AU - Sperl, Wolfgang

N1 - Paracelsus Med Univ Salzburg, Dept Pediat, A-5020 Salzburg, Austria

PY - 2011

Y1 - 2011

KW - LINKED GENE

U2 - 10.1016/j.ymgme.2011.04.010

DO - 10.1016/j.ymgme.2011.04.010

M3 - Original Article

C2 - 21596602

SN - 1096-7192

VL - 103

SP - 358

EP - 361

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

IS - 4

ER -

Mayr JA, Bodamer OA, Haack TB, Zimmermann F, Madignier F, Prokisch H et al. Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. MOLECULAR GENETICS AND METABOLISM . 2011;103(4):358-361. doi: 10.1016/j.ymgme.2011.04.010