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Titolo:
GENETIC-ANALYSIS OF HYPOPHOSPHATASIA
Autore:
SATO S; MATSUO N;
Indirizzi:
KEIO UNIV,SCH MED,DEPT PEDIAT,SHINJUKU KU,35 SHINANOMACHI TOKYO 160 JAPAN
Titolo Testata:
Acta Paediatrica Japonica Overseas Edition
fascicolo: 4, volume: 39, anno: 1997,
pagine: 528 - 532
SICI:
0374-5600(1997)39:4<528:GOH>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALKALINE-PHOSPHATASE GENE; HUMAN ALPL GENE; PRENATAL-DIAGNOSIS; INFANTILE HYPOPHOSPHATASIA; LETHAL FORM; MISSENSE; REGION; MUTATIONS; SEQUENCE; FAMILY;
Keywords:
GENETIC DEFECT; HYPOPHOSPHATASIA; LIVER/BONE/KIDNEY ALKALINE PHOSPHATASE; PRENATAL DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
26
Recensione:
Indirizzi per estratti:
Citazione:
S. Sato e N. Matsuo, "GENETIC-ANALYSIS OF HYPOPHOSPHATASIA", Acta Paediatrica Japonica Overseas Edition, 39(4), 1997, pp. 528-532

Abstract

A review is presented of the recent advances in: (i) clinical features, (ii) biochemistry and molecular biology of alkaline phosphatase, (iii) genetic defect in hypophosphatasia, and (iv) prenatal diagnosis. Despite the recent progress, the pathogenesis of hypophosphatasia is far from being elucidated. More clinical cases and further characterization of the alkaline phosphatase gene mutations are needed for better understanding of the clinical spectrum of the entity.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 07:40:56