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Titolo:
AUTOSOMAL RECESSIVE LATERALIZATION AND MIDLINE DEFECTS - BLASTOGENESIS RECESSIVE-1
Autore:
DEBRUS S; SAUER U; GILGENKRANTZ S; JOST W; JESBERGER HJ; BOUVAGNET P;
Indirizzi:
INSERM,CRBM,CNRS,1919 ROUTE MENDE F-34033 MONTPELLIER FRANCE CRBM,CNRS UPR 9008 MONTPELLIER FRANCE HOP VILLENEUVE,SERV CARDIOL B MONTPELLIER FRANCE DEUTSCH HERZZENTRUM MUNCHEN,KINDERKLIN MUNICH GERMANY UNIV KLIN KINDER & JUGENDMED,NEUROPADIATR ABT HOMBURG GERMANY GENET LAB VANDOEUVRE NANCY FRANCE
Titolo Testata:
American journal of medical genetics
fascicolo: 4, volume: 68, anno: 1997,
pagine: 401 - 404
SICI:
0148-7299(1997)68:4<401:ARLAMD>2.0.ZU;2-C
Fonte:
ISI
Lingua:
ENG
Soggetto:
GAP; SEQUENCE; FAMILY; GENE;
Keywords:
LATERALIZATION DEFECT; MIDLINE; CARDIAC MALFORMATION; AUTOSOMAL RECESSIVE; BLASTOGENESIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
9
Recensione:
Indirizzi per estratti:
Citazione:
S. Debrus et al., "AUTOSOMAL RECESSIVE LATERALIZATION AND MIDLINE DEFECTS - BLASTOGENESIS RECESSIVE-1", American journal of medical genetics, 68(4), 1997, pp. 401-404

Abstract

In this report, we present 2 sibships in which midline and lateralization anomalies are demonstrated. Because midline and lateralization processes are early embryological events, we suggest calling this sequence Blastogenesis Recessive 1 (BGR1). Since connexin 43 gene mutations were demonstrated in some polyasplenia patients and according to connexin 43 temporospatial tissue expression, we hypothesize that this genecould bear mutations responsible for the anomalies reported in these two sibships. (C) 1997 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 07/07/20 alle ore 22:10:24