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The First Successful Prenatal Diagnosis on a Korean Family with Citrullinemia

✍ Scribed by Kyeong-Man Hong; Moon-Kee Paik; Ook-Joon Yoo; Si-Houn Hahn

Book ID
106262860
Publisher
Korean Society for Molecular and Cellular Biology
Year
2000
Tongue
English
Weight
92 KB
Volume
10
Category
Article
ISSN
1016-8478

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First prenatal diagnosis by mutation ana
First prenatal diagnosis by mutation analysis in a family with SjΓΆgren–Larsson syndrome
✍ A. SillΓ©n; G. Holmgren; C. Wadelius πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 33 KB πŸ‘ 1 views

SjΓΆgren-Larsson syndrome (SLS) is a rare, autosomal recessive disorder characterized by congenital ichthyosis, mental retardation, and spastic diplegia or tetraplegia. The disorder has the highest incidence in the north of Sweden and most of the cases are caused by a C943T mutation in the FALDH gene