[Mutation analysis of FAH gene in patients with tyrosinemia type 1]. [electronic resource]
Producer: 20140130Description: 302-7 p. digitalISSN:- 0578-1310
- Amino Acid Sequence
- Base Sequence
- Child
- Child, Preschool
- DNA Mutational Analysis
- Diarrhea -- etiology
- Exons
- Female
- Heptanoates -- urine
- Humans
- Hydrolases -- genetics
- Infant
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction
- Rickets -- etiology
- Tyrosine -- blood
- Tyrosinemias -- complications
- alpha-Fetoproteins -- analysis
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Publication Type: English Abstract; Journal Article; Research Support, Non-U.S. Gov't
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