Results 201 to 210 of about 1,404,124 (275)

The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia. [PDF]

J Clin Lab Anal
Qian C, Huang C, Luo Q, Qin K, Wu Y, Liao L, Zhang Q, Xiang L, Yan J.   +8 more
europepmc   +1 more source

A novel nonsense mutation (Q509X) in three Italian late-infantile neuronal ceroid-lipofuscinosis children Communicated by: Mark H. Paalman Online Citation: Human Mutation, Mutation in Brief #328 (2000) Online http://journals.wiley.com/1059-7794/pdf/mutation/328.pdf [PDF]

, 2000
A. Tessa, A. Simonati, A. Tavoni, Enrico Bertini, Filippo M. Santorelli   +4 more
openalex   +1 more source

Case report: A novel nonsense mutation in the MARVELD2 gene causes nonsyndromic hearing loss in a China family. [PDF]

Front Genet
Huang C, Huang Z, Wang P, Wu X, Zhou Q, Ding J, Luo Q, Wu W, Fan X, Fan L.   +9 more
europepmc   +1 more source

Novel nonsense mutation in gene CHRNA2 identified by whole-genome sequencing in infant with epilepsy disorder: A case report. [PDF]

Heliyon
Makhmetov S, Temirkhanova K, Rakhimova S, Satvaldina N, Kalendar R, Kozhamkulov U, Bolatov A, Bayanova M, Bazenova A, Nazarova L, Akilzhanova A, Kairov U.   +11 more
europepmc   +1 more source

Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy. [PDF]

Front Neurol, 2022
Chen G, Zhou H, Lu Y, Wang Y, Li Y, Xue J, Cheng K, Huang R, Han J.   +8 more
europepmc   +1 more source

A novel nonsense mutation (Q1291X) in exon 20 of CFTR (ABCC7) gene [PDF]

, 2001
D Feldmann, F. Laroze, C. Troadec, A. Clément, G Tournier, R. Couderc   +5 more
openalex   +1 more source

A Novel Nonsense Mutation of the ATP2C1 Gene in an 18-Year-Old-Female with Papular Acantholytic Dyskeratosis of the Anogenital Area. [PDF]

Clin Cosmet Investig Dermatol
Huang S, Alhadidi MAA, Feng N, Wan C.
europepmc   +1 more source

Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing. [PDF]

NPJ Genom Med, 2022
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, O'Ferrall E, Tétreault M.   +11 more
europepmc   +1 more source

A novel nonsense mutation (G181X) in the human cholesteryl ester transfer protein gene in Japanese hyperalphalipoproteinemic subjects

, 1996
Takahide Arai, Shizuya Yamashita, Naohiko Sakai, Ken‐ichi Hirano, Shintaro Okada, Masato Ishigami, Takao Maruyama, M Yamane, H. Kobayashi, Satoshi Nozaki, Tohru Funahashi, Kaoru Kameda-Takemura, Nobuyuki Nakajima, Yūji Matsuzawa   +13 more
openalex   +1 more source

Nonsense Mutations in cspA Cause Ribosome Trapping Leading to Complete Growth Inhibition and Cell Death at Low Temperature in Escherichia coli [PDF]

, 2001
Bing Xia, Jean‐Pierre Etchegaray, Masayori Inouye   +2 more
openalex   +1 more source