657de15 mutation in the NBS1 gene is associated with Nijmegen breakage syndrome in a Turkish family

Clinical Genetics

Volumn 62, Issue 1, 2002, Pages 84-88

  Tekin, Mustafa ^a   Dogu F ^a   Tacyildiz N ^a   Akar, E ^a   Ikinciogullari A ^a   Ogur G ^b   Yavuz, G ^a   Babacan, E ^a   Akar, N ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b Department of Pediatric Neurology   (Turkey)

Author keywords

Anal atresia; Chromosomal instability; Congenital heart disease; Immunodeficiency; NBS1 gene; Rhabdomyosarcoma

Indexed keywords

ANTINEOPLASTIC AGENT; DIGOXIN; FUROSEMIDE; GENE PRODUCT; NIBRIN; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; NBS1 PROTEIN, HUMAN; NUCLEAR PROTEIN;

ANUS ATRESIA; ARTICLE; CASE REPORT; CAUSE OF DEATH; CHROMOSOME ABERRATION; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CONSANGUINEOUS MARRIAGE; DISEASE SEVERITY; DNA REPAIR; DNA STRAND BREAKAGE; GENE MUTATION; GROWTH RETARDATION; HEART VENTRICLE SEPTUM DEFECT; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RHABDOMYOSARCOMA; TURKEY (REPUBLIC); ADULT; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 7; CHROMOSOME DISORDER; FEMALE; GENE DELETION; GENETICS; MULTIPLE MALFORMATION SYNDROME; NEWBORN;

ABNORMALITIES, MULTIPLE; ADULT; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 14; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; HUMANS; INFANT, NEWBORN; MALE; NUCLEAR PROTEINS; SEQUENCE DELETION; TURKEY;

EID: 0036655006     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2002.620112.x     Document Type: Article

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