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Standardization of complementation grouping of peroxisome-deficient disorders and the second Zellweger patient with peroxisomal assembly factor-1 (PAF-1) defect.
- Source :
-
American journal of human genetics [Am J Hum Genet] 1993 Apr; Vol. 52 (4), pp. 843-4. - Publication Year :
- 1993
- Subjects :
- Adrenoleukodystrophy genetics
DNA Mutational Analysis
Genetic Complementation Test
Humans
Metabolism, Inborn Errors classification
Metabolism, Inborn Errors genetics
Microbodies enzymology
Peroxisomal Biogenesis Factor 2
Point Mutation
Refsum Disease genetics
Membrane Proteins genetics
Microbodies pathology
Zellweger Syndrome genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0002-9297
- Volume :
- 52
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- American journal of human genetics
- Publication Type :
- Report
- Accession number :
- 7681622