Results 301 to 308 of about 176,215 (308)

Missense mutations at ATM gene and cancer risk

The Lancet, 1999
I, Vorechovsky, L, Luo, E, Ortmann, D, Steinmann, T, Dörk   +4 more
openaire   +2 more sources

Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia

Journal of Thrombosis and Haemostasis, 2005
T Amano
exaly  

PAX6 missense mutation in isolated foveal hypoplasia

Nature Genetics, 1996
N, Azuma, S, Nishina, H, Yanagisawa, T, Okuyama, M, Yamada   +4 more
openaire   +2 more sources

Missense mutation with/without nonsense mutation of the p53 gene is associated with large cell morphology in human malignant lymphoma

Pathology International, 2007
Hiroshi Kamata, Mutsunori Fujiwara, Naoto Aoki   +2 more
exaly  

A novel missense mutation p.S305R of EDA gene causes XLHED in a Chinese family

Archives of Oral Biology, 2019
G Liu, Man Qin, Lisha Sun
exaly  

A signal peptide missense mutation associated with nicotine dependence alters α2*-nicotinic acetylcholine receptor function

Neuropharmacology, 2014
Bhagirathi Dash, Ronald J Lukas, Ming D Li   +2 more
exaly  

Informational suppression of missense mutations

Cell, 1975
openaire   +1 more source

Erlotinib therapy for Olmsted syndrome with p.L655P missense mutation in the TRPV3 gene: a case report

Frontiers in Medicine
Guo Mengyue, Cui Hongzhou
exaly