Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile;Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile

Revista Medica de Chile

Volumn 132, Issue 2, 2004, Pages 211-218

  Marcelain C, Katherine ^a,g   Aracena A, Mariana ^b   Be R, Cecilia ^c   Navarrete S, Carmen Luz ^d   Moreno H, Rosa ^e   Santos A, Manuel ^f   Pincheira V, Juana ^a  

^a UNIVERSITY OF CHILE   (Chile)

^b HOSPITAL LUIS CALVO MACKENNA   (Chile)

^c CLÍNICA LAS CONDES   (Chile)

^d HOSPITAL ROBERTO DEL RÍO   (Chile)

^e HOSPITAL DR SÓTERO DEL RÍO   (Chile)

^f PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^g UNIVERSITY OF CHILE   (Chile)

Author keywords

Ataxia telangiectasia; Genes; Nijmejen breakage syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; CYTOGENETICS; DIAGNOSTIC PROCEDURE; DNA DETERMINATION; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; MALE; MICROCEPHALY; MOLECULAR GENETICS; NIJMEGEN BREAKAGE SYNDROME; NONLYMPHATIC LEUKEMIA; SCHOOL CHILD; X RAY;

CHILD; CHILE; CHROMOSOMAL INSTABILITY; CHROMOSOME ABERRATIONS; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MALE; MUTATION; PEDIGREE;

EID: 12444275555     PISSN: 00349887     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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