Gene dosage of the spermidine/spermine N1-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD)

✍ Scribed by Giorgio Gimelli; Sabrina Giglio; Orsetta Zuffardi; Leena Alhonen; Suvikki Suppola; Roberto Cusano; Cristiana Lo Nigro; Rosanna Gatti; Roberto Ravazzolo; Marco Seri

• Publisher: Springer
• Year: 2002
• Tongue: English
• Weight: 156 KB
• Volume: 111
• Category: Article
• ISSN: 0340-6717
• DOI: 10.1007/s00439-002-0791-6