Large homozygous deletions of the 2q13 region are a major cause of juvenile nephronophthisis

Human Molecular Genetics

Volumn 5, Issue 3, 1996, Pages 367-371

  Konrad, Martin ^a   Saunier, Sophie ^a   Heidet, Laurence ^a   Silbermann, Flora ^a   Benessy, France ^a   Calado, Joaquim ^a   Le Paslier, Denis ^b   Broyer, Michel ^a   Gubler, Marie Claire ^a   Antignac, Corinne ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b FONDATION JEAN DAUSSET CEPH   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILD; CHROMOSOME 2Q; CHRONIC KIDNEY FAILURE; CONTROLLED STUDY; FEMALE; GENE DELETION; GENE REARRANGEMENT; HUMAN; KIDNEY BIOPSY; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; NEPHRONOPHTHISIS; PRIORITY JOURNAL; YEAST ARTIFICIAL CHROMOSOME;

BASE SEQUENCE; BLOTTING, SOUTHERN; CHILD; CHROMOSOMES, HUMAN, PAIR 2; CONSANGUINITY; ELECTROPHORESIS, GEL, PULSED-FIELD; FEMALE; HOMOZYGOTE; HUMANS; KIDNEY DISEASES; KIDNEY DISEASES, CYSTIC; KIDNEY MEDULLA; MALE; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; RESTRICTION MAPPING; SEQUENCE DELETION; TELOMERE;

EID: 9044227270     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.3.367     Document Type: Article

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