Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B(H) deficiency using DNA conformation polymorphism analysis and silver staining

[1]  M. Maekawa,et al.  Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant , 1992, Human Genetics.

[2]  M. Maekawa,et al.  Analysis of genetic mutations in human lactate dehydrogenase-A(M) deficiency using DNA conformation polymorphism in combination with polyacrylamide gradient gel and silver staining. , 1991, Biochemical and biophysical research communications.

[3]  M. Maekawa,et al.  A missense mutation found in human lactate dehydrogenase-B (H) variant gene. , 1990, Biochemical and biophysical research communications.

[4]  W. Li,et al.  The cDNA and protein sequences of mouse lactate dehydrogenase B. Molecular evolution of vertebrate lactate dehydrogenase genes A (muscle), B (heart) and C (testis). , 1990, European journal of biochemistry.

[5]  T. Sekiya,et al.  Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. , 1989, Genomics.

[6]  C Summers,et al.  Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). , 1989, Nucleic acids research.

[7]  T. Nishina,et al.  Hereditary complete deficiency of lactate dehydrogenase H-subunit. , 1989, Clinical chemistry.

[8]  S. Li.  Lactate dehydrogenase isoenzymes A (muscle), B (heart) and C (testis) of mammals and the genes coding for these enzymes. , 1989, Biochemical Society transactions.

[9]  T. Takano,et al.  Human testicular lactate dehydrogenase-C gene is interrupted by six introns at positions homologous to those of LDH-A (muscle) and LDH-B (heart) genes. , 1989, Biochemical and biophysical research communications.

[10]  P. Winship,et al.  An improved method for directly sequencing PCR amplified material using dimethyl sulphoxide. , 1989, Nucleic acids research.

[11]  S. Li,et al.  Structure of the human lactate dehydrogenase B gene. , 1989, The Biochemical journal.

[12]  K. Mullis,et al.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. , 1988, Science.

[13]  S. Li,et al.  The cDNA and protein sequences of human lactate dehydrogenase B. , 1987, The Biochemical journal.

[14]  W. Chia,et al.  A single amino acid substitution deregulates a bacterial lactate dehydrogenase and stabilizes its tetrameric structure. , 1987, Biochimica et biophysica acta.

[15]  S. Li,et al.  Molecular cloning and nucleotide sequence of the cDNA for sperm-specific lactate dehydrogenase-C from mouse. , 1987, The Biochemical journal.

[16]  T. Nishina,et al.  A Case of Deficiency of Lactate Dehydrogenase H-Subunit , 1986 .

[17]  S. Li,et al.  Genomic organization of human lactate dehydrogenase-A gene. , 1985, The Biochemical journal.

[18]  K. Fukasawa,et al.  Protein structure and gene organization of mouse lactate dehydrogenase-A isozyme. , 1985, European journal of biochemistry.

[19]  M. Maekawa,et al.  Estimation of the gene frequency of lactate dehydrogenase subunit deficiencies. , 1984, American journal of human genetics.

[20]  W. Fitch,et al.  Evolutionary relationships of vertebrate lactate dehydrogenase isozymes A4 (muscle), B4 (heart), and C4 (testis). , 1983, The Journal of biological chemistry.

[21]  M. Okabe,et al.  Amino acid sequence studies on lactate dehydrogenase C4 isozymes from mouse and rat testes. , 1983, The Journal of biological chemistry.

[22]  M. Rossmann,et al.  Structure of the active ternary complex of pig heart lactate dehydrogenase with S-lac-NAD at 2.7 A resolution. , 1981, Journal of molecular biology.

[23]  M G Rossmann,et al.  Structural adaptations of lactate dehydrogenase isozymes. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[24]  S. Taylor.  Amino acid sequence of dogfish muscle lactate dehydrogenase. , 1977, The Journal of biological chemistry.

[25]  L. Kunkel,et al.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[26]  C. Markert,et al.  Evolution of a gene. Multiple genes for LDH isozymes provide a model of the evolution of gene structure, function and regulation. , 1975, Science.

[27]  M. Rossman,et al.  Functional anion binding sites in dogfish M4 lactate dehydrogenase. , 1973, Journal of molecular biology.

[28]  Kitamura Motoshi,et al.  Hereditary deficiency of subunit H of lactate dehydrogenase , 1971 .

[29]  R. Kumar,et al.  Designed diagnostic restriction fragment length polymorphisms for the detection of point mutations in ras oncogenes. , 1989, Oncogene research.

[30]  N. Iijima,et al.  Hereditary deficiency of subunit H of lactate dehydrogenase. , 1971, Clinica chimica acta; international journal of clinical chemistry.