𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Prenatal diagnosis of Menkes disease by genetic analysis and copper measurement

✍ Scribed by Yan-hong Gu; Hiroko Kodama; Emi Sato; Daishi Mochizuki; Yukishige Yanagawa; Masaki Takayanagi; Kodo Sato; Atsushi Ogawa; Hiroshi Ushijima; Cheng-Chun Lee


Book ID
114248864
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
93 KB
Volume
24
Category
Article
ISSN
0387-7604

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of Menkes disease
✍ Stephen G. Kaler; Zeynep TΓΌmer πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 42 KB πŸ‘ 2 views

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