Novel mutation of L718X in the ATP7A gene in a Japanese patient with classical Menkes disease, and four novel polymorphisms in the Japanese population. [electronic resource]
Producer: 20001030Description: 315-7 p. digitalISSN:- 1434-5161
- Adenosine Triphosphatases -- genetics
- Base Sequence
- Carrier Proteins -- genetics
- Cation Transport Proteins
- Child
- Codon, Nonsense
- Copper-Transporting ATPases
- DNA
- Genetic Carrier Screening
- Humans
- Japan
- Male
- Menkes Kinky Hair Syndrome -- ethnology
- Molecular Sequence Data
- Polymorphism, Genetic
- Recombinant Fusion Proteins
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Publication Type: Case Reports; Journal Article
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