X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr³⁸⁸-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1987 • 64,270 citations

Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction

1987 • 45,673 citations

[6] Use of T7 RNA polymerase to direct expression of cloned genes

1990 • 6,681 citations

A rapid procedure for extracting genomic DNA from leukocytes

1991 • 394 citations

Human erythroid 5-aminolevulinate synthase: promoter analysis and identification of an iron-responsive element in the mRNA.

1991 • 374 citations

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

1992 • 164 citations

Expression of delta-aminolevulinate synthase in avian cells: separate genes encode erythroid-specific and nonspecific isozymes.

1989 • 163 citations

Human δ-aminolevulinate synthase: Assignment of the housekeeping gene to 3p21 and the erythroid-specific gene to the X chromosome

1990 • 162 citations

Erythroid 5-aminolevulinate synthase is located on the X chromosome.

1990 • 89 citations

Heme biosynthesis in mammalian systems: Evidence of a schiff base linkage between the pyridoxal 5′‐phosphate cofactor and a lysine residue in 5‐aminolevulinate synthase

1993 • 74 citations

Chapter 1 The biosynthesis of 5-aminolaevulinic acid and its transformation into uroporphyrinogen III

1991 • 70 citations

Molecular regulation of 5-aminolevulinate synthase. Diseases related to heme biosynthesis.

1990 • 66 citations

Two different genes encode δ-aminolevulinate synthase in humans: nucleotide sequences of cDNAs for the housekeeping and erythroid genes

1990 • 63 citations

Human erythroid 5-aminolevulinate synthase. Gene structure and species-specific differences in alternative RNA splicing.

1992 • 60 citations

2-Amino-3-ketobutyrate CoA ligase of Escherichia coli: stoichiometry of pyridoxal phosphate binding and location of the pyridoxyllysine peptide in the primary structure of the enzyme

1990 • 34 citations

Pyridoxine-Responsive Anemia—Prototype and Variations on the Theme

1964 • 33 citations

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

1992 • 33 citations

Nucleotide sequence of the 2-amino-3-ketobutyrate coenzyme A ligase (kbl) gene ofE.coli

1988 • 31 citations

5‐Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells

1992 • 21 citations

Measurement of 5-aminolevulinic acid synthase activity in whole and fractionated human bone marrow: Effect of myeloid cell lysis by monoclonal antibody

1986 • 14 citations

The selective removal of red blood cells from bone marrow cell suspensions

1979 • 11 citations

Vitamin B-6 and aging.

1988 • 11 citations