Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency-Reference-Cited by-同舟云学术

Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency

Published:2003-11-17 Issue:6 Volume:22 Page:442-450
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Akaboshi Shinjiro,Hogema Boris M.,Novelletto Andrea,Malaspina Patrizia,Salomons Gajja S.,Maropoulos George D.,Jakobs Cornelis,Grompe Markus,Gibson K. Michael

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference35 articles.

1. Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins

2. Mutation Analysis in a Patient with Succinic Semialdehyde Dehydrogenase Deficiency: A Compound Heterozygote with 103–121del and 1460T > A of the ALDH5A1 Gene

3. Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms

4. Plant Succinic Semialdehyde Dehydrogenase. Cloning, Purification, Localization in Mitochondria, and Regulation by Adenine Nucleotides

5. PURIFICATION FROM HUMAN BRAIN AND SOME PROPERTIES OF TWO NADPH-LINKED ALDEHYDE REDUCTASES WHICH REDUCE SUCCINIC SEMIALDEHYDE TO 4-HYDROXYBUTYRATE

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