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Häberle et al., 2003 - Google Patents

Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)

Häberle et al., 2003

Document ID
15348797264768016239
Author
Häberle J
Pauli S
Schmidt E
Schulze-Eilfing B
Berning C
Koch H
Publication year
Publication venue
Molecular genetics and metabolism

External Links

Snippet

Citrullinemia is caused by either deficiency of argininosuccinate synthetase (ASS, citrullinemia type 1) or a defect of the SLC25A13 gene encoding a mitochondrial aspartate– glutamate transporter (citrullinemia type II). Citrullinemia type 1—referred to as classical …
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    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Hybridisation probes
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    • C12Q2600/00—Oligonucleotides characterized by their use
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