scholarly article | Q13442814 |
P356 | DOI | 10.1034/J.1399-0004.2002.620409.X |
P698 | PubMed publication ID | 12372058 |
P2093 | author name string | B Wollnik | |
A Ghanbari | |||
C Baykal | |||
G Hafiz | |||
M Emiroglu | |||
M Yuksel-Apak | |||
O Uyguner | |||
T Tukel | |||
H Eris | |||
N Baserer | |||
P2860 | cites work | Connexin 26 mutations in hereditary non-syndromic sensorineural deafness | Q28115871 |
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A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) | Q35433462 | ||
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Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans | Q48045551 | ||
Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. | Q50495597 | ||
Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. | Q50502976 | ||
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations. | Q50507810 | ||
P433 | issue | 4 | |
P921 | main subject | hearing loss | Q16035842 |
P304 | page(s) | 306-309 | |
P577 | publication date | 2002-10-01 | |
P1433 | published in | Clinical Genetics | Q5133760 |
P1476 | title | The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family | |
P478 | volume | 62 |
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