Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

S Gobin; J-P Bonnefort; C Prip-Buus; C Mugnier; M Ferrec; F Demaugre; J-M Saudubray; H Rostane; F Djouadi; B Wilcox; S Cederbaum; R Hauss; WL Hyan; Anne Green; RGF Gray; J Girard; L Thuillier

Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

S Gobin, J-P Bonnefort, C Prip-Buus, C Mugnier, M Ferrec, F Demaugre, J-M Saudubray, H Rostane, F Djouadi, B Wilcox, S Cederbaum, R Hauss, WL Hyan, Anne Green, RGF Gray, J Girard, L Thuillier

Research output: Contribution to journal › Article

Original language	English
Pages (from-to)	178-189
Number of pages	12
Journal	Human Genetics
Volume	111
Publication status	Published - 1 Jan 2002

Cite this

Gobin, S., Bonnefort, J.-P., Prip-Buus, C., Mugnier, C., Ferrec, M., Demaugre, F., Saudubray, J.-M., Rostane, H., Djouadi, F., Wilcox, B., Cederbaum, S., Hauss, R., Hyan, WL., Green, A., Gray, RGF., Girard, J., & Thuillier, L. (2002). Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia. Human Genetics, 111, 178-189.

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title = "Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia",

author = "S Gobin and J-P Bonnefort and C Prip-Buus and C Mugnier and M Ferrec and F Demaugre and J-M Saudubray and H Rostane and F Djouadi and B Wilcox and S Cederbaum and R Hauss and WL Hyan and Anne Green and RGF Gray and J Girard and L Thuillier",

year = "2002",

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Gobin, S, Bonnefort, J-P, Prip-Buus, C, Mugnier, C, Ferrec, M, Demaugre, F, Saudubray, J-M, Rostane, H, Djouadi, F, Wilcox, B, Cederbaum, S, Hauss, R, Hyan, WL, Green, A, Gray, RGF, Girard, J & Thuillier, L 2002, 'Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia', Human Genetics, vol. 111, pp. 178-189.

TY - JOUR

T1 - Organisation of the human liver carnitine palmitoyltransferase 1 gene (CPT1A) and identification of novel mutations in hypoketotic hypoglycaemia

AU - Gobin, S

AU - Bonnefort, J-P

AU - Prip-Buus, C

AU - Mugnier, C

AU - Ferrec, M

AU - Demaugre, F

AU - Saudubray, J-M

AU - Rostane, H

AU - Djouadi, F

AU - Wilcox, B

AU - Cederbaum, S

AU - Hauss, R

AU - Hyan, WL

AU - Green, Anne

AU - Gray, RGF

AU - Girard, J

AU - Thuillier, L

PY - 2002/1/1

Y1 - 2002/1/1

M3 - Article

SN - 1432-1203

VL - 111

SP - 178

EP - 189

JO - Human Genetics

JF - Human Genetics

ER -