A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

David P. Kelsell, John Dunlop, Howard P. Stevens et al. · Nature · 1997 · 1.5K citations

Mendelian Disorder, Developmental Biology, Genetic Disorder +2

Detection of 98% of DMD/BMD gene deletions by polymerase chain reaction

Alan H. Beggs, FrederickM. Boyce, LouisM. Kunkel · Human Genetics · 1990 · 695 citations

Polymerase Chain Reaction, Medicine, Genetics +10

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

Leopoldo Zelante · Human Molecular Genetics · 1997 · 623 citations

Hereditary Hearing Loss and its Syndromes

Journal of Medical Genetics · 1995 · 511 citations

Robert J. Gorlin, Genetics, Genetic Epidemiology +23

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling

Françoise Denoyelle, Sandrine Marlin, Dominique Weil et al. · The Lancet · 1999 · 437 citations

Developmental Anomaly, Mendelian Disorder, Genetic Disorder +10