A GPHN point mutation leading to molybdenum cofactor deficiency

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Bibliographische Detailangaben
Veröffentlicht in:	Clinical genetics 2011-12, Vol.80 (6), p.598-599
Hauptverfasser:	Reiss, J, Lenz, U, Aquaviva-Bourdain, C, Joriot-Chekaf, S, Mention-Mulliez, K, Holder-Espinasse, M
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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