A novel missense mutation in human lactate dehydrogenase B-subunit gene

Molecular Genetics and Metabolism

Volumn 73, Issue 4, 2001, Pages 344-348

  Takatani, Tsunenori ^a   Takaoka, Naomi ^a   Tatsumi, Masatsugu ^a   Kawamoto, Hiromi ^a   Okuno, Yorio ^a   Morita, Keiko ^a   Masutani, Takayuki ^a   Murakawa, Koichi ^a   Okamoto, Yasuyuki ^a  

^a NARA MEDICAL UNIVERSITY HOSPITAL   (Japan)

Author keywords

Mismatched primer; PCR; RFLP

Indexed keywords

LACTATE DEHYDROGENASE; LACTATE DEHYDROGENASE ISOENZYME;

ADULT; ARTICLE; BETA CHAIN; CASE REPORT; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME DEFICIENCY; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MISSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEQUENCE ANALYSIS; WESTERN BLOTTING;

EID: 0034848859     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3203     Document Type: Article

References (14)

1. Hereditary deficiency of lactate dehydrogenase M-subunit
2. Genetic analyses in homozygous and heterozygous variants of lactate dehydrogenase-B (H) subunit: LD-B Matsumoto I and II (LD-B W323R)
3. Premature termination mutations in two patients with deficiency of lactate dehydrogenase H(B) subunit
4. Hereditary deficiency of subunit H of lactate dehydrogenase
5. A missense mutation found in human lactate dehydrogenase-B (H) variant gene
6. Analysis of a genetic mutation in an electrophoretic variant of the human lactate dehydrogenase-B (H) subunit
7. Detection and characterization of new genetic mutations in individuals heterozygous for lactate dehydrogenase-B (H) deficiency using DNA conformation polymorphism analysis and silver staining
8. Population screening of lactate dehydrogenase deficiencies in Fukuoka Prefecture in Japan and molecular characterization of three independent mutations in the lactate dehydrogenase-B (H) gene
9. Arginine to tryptophan substitution in the active site of a human lactate dehydrogenase variant - LDHB GUA1: Postulated effects on subunit structure and catalysis
10. Molecular characterization of genetic mutations in human lactate dehydrogenase (LDH) B (H) variant
11. First case of missense mutation (LDH-H:R171P) in exon 4 of the lactate dehydrogenase gene detected in a Japanese patient
12. A novel in-frame deletion mutation in a case of lactate dehydrogenase (LD) H subunit deficiency showing an atypical LD isoenzyme pattern in serum and erythrocytes
13. DNA analysis of slow type of electrophoretic lactate dehydrogenase B(H) variant
14. Structure of the active ternary complex of pig heart lactate dehydrogenase with S-lac-NAD at 2.7 Å resolution