Jean L Johnson

Summary

Affiliation: Duke University Medical Center
Country: USA

Publications

  1. ncbi request reprint Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency
    J L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet 104:169-73. 2001
  2. ncbi request reprint Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis
    J L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Prenat Diagn 22:433-6. 2002
  3. ncbi request reprint Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Hum Mutat 20:74. 2002
  4. ncbi request reprint Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Prenat Diagn 23:6-8. 2003
  5. ncbi request reprint Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
    Jochen Reiss
    Institut für Humangenetik der Universitätskliniken Göttingen, Gottingen, Germany
    Hum Mutat 21:569-76. 2003
  6. ncbi request reprint The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain
    Michael J Rudolph
    Department of Pharmacological Sciences and Center for Structural Biology, State University of New York at Stony Brook, Stony Brook, New York 11794 5115, USA
    Acta Crystallogr D Biol Crystallogr 59:1183-91. 2003

Collaborators

Detail Information

Publications6

  1. ncbi request reprint Molybdopterin synthase mutations in a mild case of molybdenum cofactor deficiency
    J L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, North Carolina 27710, USA
    Am J Med Genet 104:169-73. 2001
    ..It is postulated that the milder clinical symptoms result from a low level of residual molybdopterin synthase activity derived from the 19G > T allele...
  2. ncbi request reprint Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis
    J L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Prenat Diagn 22:433-6. 2002
    ..In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child...
  3. ncbi request reprint Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Hum Mutat 20:74. 2002
    ..This mutation, however, is downstream of a frameshift mutation and is therefore not the causative mutation in this individual...
  4. ncbi request reprint Prenatal diagnosis of molybdenum cofactor deficiency and isolated sulfite oxidase deficiency
    Jean L Johnson
    Department of Biochemistry, Duke University Medical Center, Durham, NC 27710, USA
    Prenat Diagn 23:6-8. 2003
    ..These include MOCS1, MOCS2 or GEPH, in cases of molybdenum cofactor deficiency, or SUOX in patients with isolated sulfite oxidase deficiency...
  5. ncbi request reprint Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH
    Jochen Reiss
    Institut für Humangenetik der Universitätskliniken Göttingen, Gottingen, Germany
    Hum Mutat 21:569-76. 2003
    ..A total of 32 different disease-causing mutations, including several common to more than one family, have been identified in molybdenum cofactor-deficient patients and their relatives...
  6. ncbi request reprint The 1.2 A structure of the human sulfite oxidase cytochrome b(5) domain
    Michael J Rudolph
    Department of Pharmacological Sciences and Center for Structural Biology, State University of New York at Stony Brook, Stony Brook, New York 11794 5115, USA
    Acta Crystallogr D Biol Crystallogr 59:1183-91. 2003
    ....