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GJB2 wt Allele
Known as:
Gap Junction Protein Beta 2 wt Allele
, Gap Junction Protein, 26kD Gene
, DFNA3A
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Human GJB2 wild-type allele is located within 13q11-q12 and is approximately 6 kb in length. This allele, which encodes gap junction beta-2 protein…
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National Institutes of Health
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Related topics
Related topics
8 relations
13q11-q12
GJB2 gene
Hearing
Homo sapiens
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Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
Punctate Palmoplantar Keratodermas: Case Reports and A Review of the Literature and Terminology
Lieberman Mr
,
M. Kober
,
Lowenstein Ej
,
E. Heilman
2016
Corpus ID: 6957822
Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of…
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2014
2014
Penterjemahan Pengetahuan Pedagogi Kandungan dalam Proses Tindakan Guru Bahasa Iban Baharu dan Berpengalaman Bukan Opsyen (The Application of the Pedagogical Content Knowledge Among not an Opstion…
Magdeline Anak Nor
,
Zamri Mahamod
2014
Corpus ID: 147577787
This study aims to examine how the pedagogical content knowledge (PPK) was applied in the form of pedagogical reasoning and…
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2009
2009
A Private Photos Keeper System Based on Spatial Domain Techniques
Jianhong Sun
,
Bo-Zhi Yang
,
Shanwu Gao
,
Junsheng Li
International Conference on Information…
2009
Corpus ID: 7540837
As a result, many people have met a serious problem about how to make their private digital photos in safe keeping. The leaked…
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2008
2008
Population pharmacokinetic (PPK) analysis of recombinant human Apo2L/TRAIL (rhApo2L/TRAIL) in a Phase 1a Study in advanced cancer and lymphoma
Y. Xin
,
T. Tohnya
,
+7 authors
N. Jumbe
2008
Corpus ID: 74561884
2525 Background: rhApo2L/TRAIL induces apoptosis through binding to the pro-apoptotic receptors DR4 and DR5. This drug…
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2005
2005
Effects of people knowledge on science learning in a computer-based learning environment
洪煌堯
,
Huang-Yao Hong
2005
Corpus ID: 60603897
A weakness inherent in science education has been, and continues to be, its emphasis principally on the teaching of scientific…
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2000
2000
Pseudodominant inheritance of DFNB1 deafness due to the common 35delG mutation
A. Pampanos
,
P. Neou
,
+6 authors
M. Petersen
Clinical Genetics
2000
Corpus ID: 11495450
To the Editor: Mutations in the gene encoding the gap-junction protein connexin 26 (GJB2) on chromosome 13q11 (DFNB1 locus) have…
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2000
2000
[Hereditary sensorineural deafness].
F. Denoyelle
,
Sandrine Marlin
,
Christine Petit
,
E. Garabédian
La Revue du praticien
2000
Corpus ID: 30150289
Deafness is the most common sensory defect. The investigation of the cause of deafness is critical for genetic counselling, and…
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1996
1996
Keratosis palmoplantaris varians et punctata Klinische Variabilität eines einzigen genetischen Defektes?
Georges P. H. Lucker
,
Peter M. Steijlen
Der Hautarzt
1996
Corpus ID: 22942953
ZusammenfassungKeratosis palmoplantaris (KPP) varians und KPP punctata werden bisher als unterschiedliche Formen der kongenitalen…
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1983
1983
Assaying plasma prekallikrein (PPK) by a chromogenic based method: analytical considerations and reference values in healthy adults, the pregnant woman, and the neonate.
R. Ito
,
B. Statland
,
G. Sher
,
V. Knutzen
Advances in Experimental Medicine and Biology
1983
Corpus ID: 40451170
Analytical assays that measure the amidolytic activity of plasma kallikrein (PK) must overcome the problem of anti-kallikrein…
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1980
1980
Palmoplantar keratoderma and Charcot-Marie-Tooth disease.
G. Rabbiosi
,
G. Borroni
,
P. Pinelli
,
V. Cosi
Archives of Dermatology
1980
Corpus ID: 13134675
A close association was noted between palmoplantar keratoderma (PPK) and Charcot-Marie-Tooth disease (CMT) in nine members of a…
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