Results 191 to 200 of about 1,404,124 (275)

A novel nonsense mutation in <i>SCAF4</i> associated with fliedner-zweier syndrome: a case report and review of the literature. [PDF]

Front Genet
Chen Z, Zhao J, Fan X, Xuan X, Zhao X.
europepmc   +1 more source

A nonsense mutation in the CUL3 gene in a Chinese patient with autism spectrum disorder and epilepsy: A case report. [PDF]

Medicine (Baltimore), 2023
Qian M, Lin S, Tan Y, Chen Q, Wang W, Li J, Mu C.   +6 more
europepmc   +1 more source

A novel nonsense mutation of the PEPD gene in a Japanese patient with prolidase deficiency [PDF]

, 2000
S. Kikuchi, Akito Tanoue, F. Endo, Shoji Wakasugi, Naoki Matsuo, Gozoh Tsujimoto   +5 more
openalex   +1 more source

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria. [PDF]

Front Genet
Jia N, Yimin Y, Li M, Jiang L, Liu Y.
europepmc   +1 more source

Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report. [PDF]

Front Pediatr, 2023
Chen LJ, You ZM, Chen WH, Yang S, Feng CC, Wang HY, Wang T, Zhu YY.   +7 more
europepmc   +1 more source

Nonsense mutation at Tyr-4046 in the DNA-dependent protein kinase catalytic subunit of severe combined immune deficiency mice

, 1997
Ryoko Araki, Akira Fujimori, Kiyohiro Hamatani, Kazuei Mita, Toshiyuki Saito, Masahiko Mori, Ryutaro Fukumura, Mitsuoki Morimyo, Masahiro Muto, Masahiro Itoh, Kouichi Tatsumi, Masumi Abe   +11 more
openalex   +1 more source

Q1311X: a novel nonsense mutation of putative ancient origin in the von Willebrand factor gene. SHORT REPORT [PDF]

, 2000
Pilar Casaña, Francisco Martı́nez, Saturnino Haya, José Ignacio Lorenzo, Carmen Espinós, José A. Aznar   +5 more
openalex   +1 more source

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]

, 2007
De Baere, Elfride, Jitendra, Jethani, Nallathambi, Jeyabalan, Neethirajan, Guruswamy, Sundaresan, Periasamy, Usha, Kim   +5 more
core   +2 more sources

Mechanism-based approach in designing patient-specific combination therapies for nonsense mutation diseases. [PDF]

Nucleic Acids Res
Bhat SY, Bhattacharya A, Li H, Cui X, Lueck JD, Goldman YE, Cooperman BS.   +6 more
europepmc   +1 more source

An Extended Iranian Family with Autosomal Dominant Non-syndromic Hearing Loss Associated with A Nonsense Mutation in the DIAPH1 Gene. [PDF]

Arch Iran Med, 2023
Mohseni M, Mohammadi Y, Zare Ashrafi F, Ghodratpour F, Jalalvand K, Arzhangi S, Babanejad M, Azizi MH, Kahrizi K, Najmabadi H.   +9 more
europepmc   +1 more source