A GPHN point mutation leading to molybdenum cofactor deficiency
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| Veröffentlicht in: | Clinical genetics 2011-12, Vol.80 (6), p.598-599 |
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| container_issue | 6 |
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| container_title | Clinical genetics |
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| creator | Reiss, J Lenz, U Aquaviva-Bourdain, C Joriot-Chekaf, S Mention-Mulliez, K Holder-Espinasse, M |
| description | |
| doi_str_mv | 10.1111/j.1399-0004.2011.01709.x |
| format | Article |
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| fulltext | fulltext |
| identifier | ISSN: 0009-9163 |
| ispartof | Clinical genetics, 2011-12, Vol.80 (6), p.598-599 |
| issn | 0009-9163 1399-0004 |
| language | eng |
| recordid | cdi_proquest_journals_900371359 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Amino Acid Sequence Biological and medical sciences Carrier Proteins - genetics Female Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Humans Infant, Newborn Medical genetics Medical sciences Membrane Proteins - genetics Metal Metabolism, Inborn Errors - diagnosis Metal Metabolism, Inborn Errors - genetics Molecular and cellular biology Molecular Sequence Data Molybdoferredoxin - genetics Point Mutation Sequence Alignment |
| title | A GPHN point mutation leading to molybdenum cofactor deficiency |
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