About 90-95 per cent of the patients have a severe clinical course leading to death in early childhood. ATP7A mutations associated with MD show great variety, from cytogenetic abnormalities to partial gene deletions to single base-pair changes. As a lethal X-linked trait, an estimated one-third of n
β¦ LIBER β¦
Prenatal diagnosis of Menkes disease by mutation analysis
β Scribed by S. Das; S. Whitney; J. Taylor; E. Chen; B. Levinson; C. Vulpe; J. Gitschier; S. Packman
- Book ID
- 104899414
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 139 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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