Splice-site mutation in the PDS gene may result in intrafamilial variability for deafness in pendred syndrome

Human Mutation

Volumn 14, Issue 6, 1999, Pages 520-526

  López Bigas, Núria ^a   Rabionet, Raquel ^a   De Cid, Rafael ^a   Govea, Nancy ^a   Gasparini, Paolo ^b   Zelante, Leopoldo ^b   Arbonés, Maria Lourdes ^a   Estivill, Xavier ^a  

^a HOSPITAL DURAN I REYNALS   (Spain)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

Deafness; Hearing loss; PDS; Pendred syndrome; Pendrin

Indexed keywords

CARRIER PROTEIN; CHLORIDE; DNA; IODIDE; NUCLEOTIDE; RNA;

ARTICLE; CHROMOSOME 7Q; GENE; GENE MUTATION; HEARING IMPAIRMENT; HUMAN; PENDRED SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; AUDIOMETRY; BASE SEQUENCE; CARRIER PROTEINS; COCHLEA; DNA; FEMALE; GENES, RECESSIVE; GOITER; HEARING LOSS, SENSORINEURAL; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MUTATION; PEDIGREE; PHENOTYPE; RNA SPLICING; SYNDROME;

EID: 0344577853     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(199912)14:6<520::AID-HUMU11>3.0.CO;2-K     Document Type: Article

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