ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION

Authors
GASPARINI P CALVANO S MEMEO E BISCEGLIA L ZELANTE L
Citation
P. Gasparini et al., ASSIGNMENT OF FERRITIN L GENE (FTL) TO HUMAN-CHROMOSOME BAND 19Q13.3 BY IN-SITU HYBRIDIZATION, Annales de genetique, 40(4), 1997, pp. 227-228
Citations number
5
Journal title
Annales de genetique → ACNP
ISSN journal
00033995
Volume
40
Issue
4
Year of publication
1997
Pages
227 - 228
Database
ISI
SICI code
0003-3995(1997)40:4<227:AOFLG(>2.0.ZU;2-3
Abstract
A new genetic disorder (Hyperferritinemia and Cataract Syndrome) chara cterized by a combination of high serum ferritin level and congenital bilateral nuclear cataract has been recently described. This disease i s trasmitted as autosomal dominant trait and is due to mutations in th e ferritin L gene (FTL). FTL gene has been localized to 19q13.3-qter b y somatic cell hybrids. In this work we present the precise mapping of FTL gene on chromosome 19q13.3 using in situ fluorescence hybridizati on.