Molecular analysis of patients with type III Bartter syndrome: Picking up large heterozygous deletions with semiquantitative PCR

Pediatric Research

Volumn 62, Issue 3, 2007, Pages 364-369

  Nozu, Kandai ^a   Fu, Xue Jun ^a   Nakanishi, Koichi ^b   Yoshikawa, Norishige ^b   Kaito, Hiroshi ^a   Kanda, Kyoko ^a   Krol, Rafal Przybyslaw ^a   Miyashita, Ritsuko ^c   Kamitsuji, Hidekazu ^d   Kanda, Shoichiro ^e   Hayashi, Yoshiki ^e   Satomura, Kenichi ^f   Shimizu, Nobuhiko ^f   Iijima, Kazumoto ^g   Matsuo, Masafumi ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^c Izumiotsu Municipal Hospital   (Japan)

^d Kamitsuji Children's Clinic   (Japan)

^e Ome Municipal General Hospital   (Japan)

^f RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^g NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CHLORIDE CHANNEL; CHLORIDE CHANNEL KB; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BARTTER SYNDROME; CAPILLARY ELECTROPHORESIS; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FEMALE; FOUNDER EFFECT; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; JAPAN; JAPANESE; MALE; NONSENSE MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; BARTTER SYNDROME; CHILD, PRESCHOOL; CHLORIDE CHANNELS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; SEQUENCE DELETION;

EID: 34548119120     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e318123fb90     Document Type: Article

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