HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q-Reference-Cited by-同舟云学术

HMG CoA Lyase Deficiency: Identification of Five Causal Point Mutations in Codons 41 and 42, Including a Frequent Saudi Arabian Mutation, R41Q

Published:1998-02 Issue:2 Volume:62 Page:295-300
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mitchell Grant A.,Ozand Pinar T.,Robert Marie-France,Ashmarina Lyudmila,Roberts Jacqueline,Gibson K. Michael,Wanders Ronald J.,Wang Shupei,Chevalier Isabelle,Plöchl E.,Miziorko Henry

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference26 articles.

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3. A 3-hydroxy-3-methylglutaryl-CoA lyase gene in the photosynthetic bacterium Rhodospirillum rubrum;Baltscheffsky;Biochim Biophys Acta,1997

4. A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding;Bradford;Anal Biochem,1976

5. Aberrantly spliced mRNAs of the 3-hydroxy-3-methylglutaryl coenzyme A lyase (HL) gene with a donor splice-site point mutation produce hereditary HL deficiency;Buesa;J Lipid Res,1996

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