A deletion distinct from the classical homologous recombination of juvenile nephronophthisis type 1 (NPH1) allows exact molecular definition of deletion breakpoints

Human Mutation

Volumn 16, Issue 3, 2000, Pages 211-223

  Otto, Edgar ^a   Betz, Regina ^a   Rensing, Cornelia ^a   Schätzle, Silvia ^a   Kuntzen, Thomas ^a   Vetsi, Thalia ^a   Imm, Anita ^a   Hildebrandt, Friedhelm ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Deletion breakpoint analysis; Juvenile nephronophthisis; LINE 1; NPH1; NPHP1

Indexed keywords

DNA TOPOISOMERASE; DNA TOPOISOMERASE (ATP HYDROLYSING); GENE PRODUCT;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTROMERE; GENE DELETION; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; NEPHRONOPHTHISIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

ADOLESCENT; ADULT; BLOTTING, SOUTHERN; CENTROMERE; CHILD; CHILD, PRESCHOOL; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CLONING, MOLECULAR; FEMALE; HUMANS; KIDNEY DISEASES, CYSTIC; MALE; PROTEINS; RECOMBINATION, GENETIC; SRC HOMOLOGY DOMAINS; TELOMERE;

EID: 0033850438     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-1004(200009)16:3<211::AID-HUMU4>3.0.CO;2-Y     Document Type: Article

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