Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with pendred-syndrome;Identifizierung won zwei heterozygoten mutationen im SLC26A4/PDS-gen einer familie mit pendred-syndrom

Laryngo- Rhino- Otologie

Volumn 83, Issue 12, 2004, Pages 831-835

  Birkenhäger, Ralf ^a   Knapp, F B ^a   Klenzner, T ^a   Aschendorff, A ^a   Schipper, J ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Mutations analysis; Pendred Syndrome; SLC26A4 PDS gene

Indexed keywords

CHLORIDE; IODIDE; CARRIER PROTEIN; SLC26A4 PROTEIN, HUMAN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHLORIDE TRANSPORT; CHROMOSOME 7Q; CLINICAL ARTICLE; DNA FLANKING REGION; FEMALE; GENE; GENE IDENTIFICATION; GENE MUTATION; GENE SLC26A4; HEARING IMPAIRMENT; HUMAN; INNER EAR; KIDNEY; LINKAGE ANALYSIS; MALE; PENDRED SYNDROME; PERCEPTION DEAFNESS; PLACENTA; PRIORITY JOURNAL; PROTEIN EXPRESSION; THYROID GLAND; XENOPUS LAEVIS; CHILD; CHROMOSOME 7; CHROMOSOME ABERRATION; CHROMOSOME MAP; COCHLEA; CONGENITAL MALFORMATION; EXON; FOLLOW UP; GENETICS; GOITER; HETEROZYGOTE DETECTION; IMPLANTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD; RECESSIVE GENE; SYNDROME; TEMPORAL BONE;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 7; COCHLEA; COCHLEAR IMPLANTATION; DEAFNESS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; FOLLOW-UP STUDIES; GENES, RECESSIVE; GOITER; HEARING LOSS, SENSORINEURAL; HETEROZYGOTE DETECTION; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; PEDIGREE; PHENOTYPE; SYNDROME; TEMPORAL BONE;

EID: 10844262547     PISSN: 09358943     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2004-826001     Document Type: Article

References (23)

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