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Prenatal diagnosis of cystic fibrosis using linked DNA markers and microvillar intestinal enzyme analysis

✍ Scribed by J. Edward Spence; Gregory J. Buffone; Craig L. Rosenbloom; Susan D. Fernbach; Martha R. Curry; Robert J. Carpenter; David H. Ledbetter; William E. O'Brien; Arthur L. Beaudet


Publisher
Springer
Year
1987
Tongue
English
Weight
707 KB
Volume
76
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES


PRENATAL DIAGNOSIS OF X-LINKED MYOTUBULA
✍ LING-JIA HU; JOCELYN LAPORTE; WOLFRAM KRESS; NIKLAS DAHL πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 834 KB

X-linked myotubular myopathy (MTM 1) is a severe congenital myopathy characterized by hypotonia, muscle weakness, and associated respiratory insufficiency. Pennatal death is common. The disease locus was shown to be linked to polymorphic markers in Xq28 and we have recently refined the MTMl locus to