Molecular prenatal diagnosis of ataxia telangiectasia heterozygosity by direct mutational assays

Prenatal Diagnosis

Volumn 19, Issue 6, 1999, Pages 542-545

  Chessa, L ^a,d   Piane, M ^a   Prudente, S ^a   Carducci, C ^a   Mazzilli, M C ^a   Pachti A ^a   Negrini, M ^e   Narducci, M G ^b   Russo, G ^b   Frati, L ^a,c  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^c IRCCS NEUROMED   (Italy)

^d FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^e NONE

Author keywords

Ataxia telangiectasia; ATM gene; Maternal contamination; Molecular prenatal diagnosis; Polymorphic loci

Indexed keywords

HLA DQ ANTIGEN; HLA DR ANTIGEN; MICROSATELLITE DNA; RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; ATAXIA TELANGIECTASIA; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORION VILLUS SAMPLING; DNA SEQUENCE; EXON; FEMALE; FETUS; GENE LOCUS; GENE MUTATION; HETEROZYGOSITY; HUMAN; HUMAN CELL; MALE; MOLECULAR GENETICS; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ADULT; ATAXIA TELANGIECTASIA; CHORIONIC VILLI SAMPLING; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; POINT MUTATION; POLYMORPHISM, GENETIC; PREGNANCY; PRENATAL DIAGNOSIS;

ATAXIA; ATAXIA TELANGIECTASIA; POMACANTHUS MACULOSUS;

EID: 0032972238     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199906)19:6<542::AID-PD586>3.0.CO;2-L     Document Type: Article

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