Title : [A novel mutation of the ALAS2 gene in a family with X-linked sideroblastic anemia].

Pub. Date : 2000 Sep

PMID : 11877024






1 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 The mutation in the patients" ALAS2 gene was exon 5 A523G, causing threonine to alanine; and exon 3 T372C, leucine to proline. Leucine 5'-aminolevulinate synthase 2 Homo sapiens