Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. [electronic resource]

By:

Oppliger, T

Contributor(s):

Thöny, B
Kluge, C
Matasovic, A
Heizmann, C W
Ponzone, A
Spada, M
Blau, N

Producer: 19970826Description: 25-35 p. digitalISSN:

1059-7794

Subject(s):

Alcohol Oxidoreductases -- blood
Alleles
Amino Acid Metabolism, Inborn Errors -- enzymology
Blotting, Western
Cells, Cultured
DNA, Complementary -- genetics
Enzyme Stability
Female
Heterozygote
Homozygote
Humans
Infant, Newborn
Italy
Male
Molecular Sequence Data
Mutation
Pedigree
Phenylalanine -- blood
Phosphorus-Oxygen Lyases
Pterins -- cerebrospinal fluid
Recombinant Proteins -- metabolism
Sequence Analysis, DNA
Transfection -- genetics

Online resources:

Available from publisher's website

In: Human mutation vol. 10

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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

APA

Oppliger T., Thöny B., Kluge C., Matasovic A., Heizmann C. W., Ponzone A., Spada M. & Blau N. (19970826). Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. : Human mutation.

Chicago

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann C W, Ponzone A, Spada M and Blau N. 19970826. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. : Human mutation.

Harvard

Oppliger T., Thöny B., Kluge C., Matasovic A., Heizmann C. W., Ponzone A., Spada M. and Blau N. (19970826). Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. : Human mutation.

MLA

Oppliger T, Thöny B, Kluge C, Matasovic A, Heizmann C W, Ponzone A, Spada M and Blau N. Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. : Human mutation. 19970826.

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