Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2000-03, Vol.23 (2), p.185-187
Hauptverfasser:	Pomponio, R. J., Ozand, P. T., Al Essa, M., Wolf, B.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amidohydrolases - deficiency Amidohydrolases - genetics Aminoacid disorders Biological and medical sciences Biotin - metabolism Biotinidase Child, Preschool DNA - analysis DNA - genetics Errors of metabolism Humans Infant Infant, Newborn Medical sciences Metabolic diseases Molecular Sequence Data Mutation - genetics Mutation, Missense - genetics Reverse Transcriptase Polymerase Chain Reaction Saudi Arabia Sequence Deletion - genetics
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