Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans

Human Molecular Genetics

Volumn 6, Issue 9, 1997, Pages 1605-1609

  Zelante, Leopolde ⁱ   Gasparini, Paolo ⁱ   Estivill, Xavier ^a   Melchionda, Salvatore ⁱ   D'Agruma, Leonardo ⁱ   Govea, Nancy ^b   Milá, Monserrat ^b   Della Monica, Matteo ^c   Lutfi, Jaber ^d   Shohat, Mordechai ^d   Mansfield, Elaine ^e   Delgrosso, Kathleen ^f   Rappaport, Eric ^g   Surrey, Saul ^f   Fortina, Paolo ^g,h  

^a Institut de Recerca Oncologica   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

^c S G MOSCATI HOSPITAL   (Italy)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^e Molecular Dynamics   (United States)

^f NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

ⁱ CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

GAP JUNCTION PROTEIN;

ARTICLE; CHROMOSOME 13Q; DELETION MUTANT; FRAMESHIFT MUTATION; GENE DELETION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC MARKER; HUMAN; MAJOR CLINICAL STUDY; NONSENSE MUTATION; PERCEPTION DEAFNESS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN EUROPE;

CONNEXINS; DEAFNESS; DNA PRIMERS; GENETIC MARKERS; HEARING LOSS, CONDUCTIVE; HEARING LOSS, SENSORINEURAL; HUMANS; MEDITERRANEAN REGION; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SEQUENCE ANALYSIS, DNA;

EID: 9844245885     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.9.1605     Document Type: Article

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