Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

Journal of Medical Genetics

Volumn 45, Issue 3, 2008, Pages 182-186

  Nozu, K ^a   Inagaki, T ^b   Fu, X J ^a   Nozu, Y ^a   Kaito, H ^a   Kanda, K ^a   Sekine, T ^c   Igarashi, T ^c   Nakanishi, K ^d   Yoshikawa, N ^d   Iijima, K ^e   Matsuo, M ^a  

^a KOBE UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b MIYAGI CHILDREN S HOSPITAL   (Japan)

^c UNIVERSITY OF TOKYO   (Japan)

^d WAKAYAMA MEDICAL UNIVERSITY   (Japan)

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

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN CLCNKA; PROTEIN CLCNKB; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; BARTTER SYNDROME; CASE REPORT; COMORBIDITY; CONSANGUINEOUS MARRIAGE; FATHER; FEMALE; GENE DELETION; GENE FUNCTION; GENE MUTATION; HOMOZYGOSITY; HUMAN; INHERITANCE; MOLECULAR GENETICS; NONSENSE MUTATION; PARENT; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

ALLELES; BARTTER SYNDROME; BASE SEQUENCE; CHILD, PRESCHOOL; CHLORIDE CHANNELS; CODON, NONSENSE; DNA; DNA MUTATIONAL ANALYSIS; DNA PRIMERS; FEMALE; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE; HUMANS; MALE; MUTATION; PHENOTYPE; RNA SPLICE SITES; SEQUENCE DELETION;

EID: 40649112131     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.052944     Document Type: Article

References (29)