The first splice site mutation associated with erythrocyte glucose phosphate isomerase deficiency

L. Baroociaoi; A. Zanclla; P. Bianchi; M. Zappa; C. Vercellati; G. Sirchia; F. Bertolini

The first splice site mutation associated with erythrocyte glucose phosphate isomerase deficiency

L. Baroociaoi, A. Zanclla, P. Bianchi, M. Zappa, C. Vercellati, G. Sirchia, F. Bertolini

Research output: Contribution to journal › Article › peer-review

Abstract

Glucose phosphate isomcrase GPI deficiency is the third most frequent cause of hereditarv hemorytic anemia due to 2 defective enzyme. So far more than forty different biochemical variants have been reported but only eight of them were characterized at the molecular level. We have studied four unrelated Italian patients with GPI deficiency Using intronic primers we were able to identify the gene alterations in the four patients (301 A/301 A. 1028G/1028G. 584T/286T. 5S4T/del 1473-Ivsl6 (+2)) All were new but I028G. already identified in GPI Narita Del I473-1 vs 16 (+2). located in the junction of exon/intron 16

Original language	English
Pages (from-to)	1065
Number of pages	1
Journal	Experimental Hematology
Volume	24
Issue number	9
Publication status	Published - 1996

ASJC Scopus subject areas

Cancer Research
Cell Biology
Genetics
Hematology
Oncology
Transplantation

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abstract = "Glucose phosphate isomcrase GPI deficiency is the third most frequent cause of hereditarv hemorytic anemia due to 2 defective enzyme. So far more than forty different biochemical variants have been reported but only eight of them were characterized at the molecular level. We have studied four unrelated Italian patients with GPI deficiency Using intronic primers we were able to identify the gene alterations in the four patients (301 A/301 A. 1028G/1028G. 584T/286T. 5S4T/del 1473-Ivsl6 (+2)) All were new but I028G. already identified in GPI Narita Del I473-1 vs 16 (+2). located in the junction of exon/intron 16 ",

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T1 - The first splice site mutation associated with erythrocyte glucose phosphate isomerase deficiency

AU - Baroociaoi, L.

AU - Zanclla, A.

AU - Bianchi, P.

AU - Zappa, M.

AU - Vercellati, C.

AU - Sirchia, G.

AU - Bertolini, F.

PY - 1996

Y1 - 1996

N2 - Glucose phosphate isomcrase GPI deficiency is the third most frequent cause of hereditarv hemorytic anemia due to 2 defective enzyme. So far more than forty different biochemical variants have been reported but only eight of them were characterized at the molecular level. We have studied four unrelated Italian patients with GPI deficiency Using intronic primers we were able to identify the gene alterations in the four patients (301 A/301 A. 1028G/1028G. 584T/286T. 5S4T/del 1473-Ivsl6 (+2)) All were new but I028G. already identified in GPI Narita Del I473-1 vs 16 (+2). located in the junction of exon/intron 16

AB - Glucose phosphate isomcrase GPI deficiency is the third most frequent cause of hereditarv hemorytic anemia due to 2 defective enzyme. So far more than forty different biochemical variants have been reported but only eight of them were characterized at the molecular level. We have studied four unrelated Italian patients with GPI deficiency Using intronic primers we were able to identify the gene alterations in the four patients (301 A/301 A. 1028G/1028G. 584T/286T. 5S4T/del 1473-Ivsl6 (+2)) All were new but I028G. already identified in GPI Narita Del I473-1 vs 16 (+2). located in the junction of exon/intron 16

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JO - Experimental Hematology

JF - Experimental Hematology

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The first splice site mutation associated with erythrocyte glucose phosphate isomerase deficiency

Abstract

ASJC Scopus subject areas

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