A Nonsense Mutation in the Exon 2 of the 3-Hydroxy- 3-methylglutaryl Coenzyme A Lyase (HL) Gene Producing Three Mature mRNAs Is the Main Cause of 3-Hydroxy-3-methylglutaric Aciduria in European Mediterranean Patients

Author： Casale C.H.   Casals N.   Pie J.   Zapater N.   Perez-Cerda C.   Merinero B.   Martinez-Pardo M.   Garcia-Penas J.J.   Garcia-Gonzalez J.M.   Lama R.   Poll-The B.T.   Smeitink J.A.M.   Wanders R.J.A.   Ugarte M.   Hegardt F.G.  

Publisher： Elsevier

ISSN： 0003-9861

Source： Archives of Biochemistry and Biophysics, Vol.349, Iss.1, 1998-01, pp. : 129-137

Disclaimer: Any content in publications that violate the sovereignty, the constitution or regulations of the PRC is not accepted or approved by CNPIEC.

Previous Menu Next

Abstract

Related content

Two Missense Point Mutations in Different Alleles in the 3-Hydroxy-3-methylglutaryl Coenzyme A Lyase Gene Produce 3-Hydroxy-3-methylglutaric Aciduria in a French Patient

By Zapater N.   Pié J.   Lloberas J.   Rolland M-O.   Leroux B.   Vidailhet M.   Divry P.   Hegardt F.G.   Casals N.  

Archives of Biochemistry and Biophysics, Vol. 358, Iss. 2, 1998-10 ,pp. : 197-203

Elsevier

Access to resources Recommend Favorite

Changes in mRNA expression of 3-hydroxy-3-methylglutaryl coenzyme A reductase and cholesterol 7 alpha-hydroxylase in chickens

By Sato K.   Ohuchi A.   Sook S.H.   Toyomizu M.   Akiba Y.  

BBA - Gene Structure and Expression, Vol. 1630, Iss. 2, 2003-11 ,pp. : 96-102

Elsevier

Access to resources Recommend Favorite

Dietary Cholesterol Regulates Hepatic 3-Hydroxy-3-methylglutaryl Coenzyme A Reductase Gene Expression in Rats Primarily at the Level of Translation

By Chambers C.M.   Ness G.C.  

Archives of Biochemistry and Biophysics, Vol. 354, Iss. 2, 1998-06 ,pp. : 317-322

Elsevier

Access to resources Recommend Favorite

Cloning and Characterization of a Root-specific Expressing Gene Encoding 3-hydroxy-3-methylglutaryl Coenzyme a Reductase from Ginkgo biloba

By Shen Guoan   Pang Yongzhen   Wu Weisheng   Liao Zhihua   Zhao Lingxia   Sun Xiaofen   Tang Kexuan  

Molecular Biology Reports, Vol. 33, Iss. 2, 2006-06 ,pp. : 117-127

Springer Publishing Company

Access to resources Recommend Favorite

3-Hydroxy-3-Methylglutaryl-Coenzyme A Reductase Kinase and Sucrose-Phosphate Synthase Kinase Activities in Cauliflower Florets: Ca2+ Dependence and Substrate Specificities

By Toroser D.   Huber S.C.  

Archives of Biochemistry and Biophysics, Vol. 355, Iss. 2, 1998-07 ,pp. : 291-300

Elsevier

Access to resources Recommend Favorite