Results 131 to 140 of about 1,404,124 (275)

A novel mutation in the leptin gene (W121X) in an Egyptian family

Molecular Genetics and Metabolism Reports, 2014
Congenital leptin deficiency is a rare recessively inherited condition due to homozygous mutations in the LEP gene. To date, only nine mutations have been identified in the LEP gene (p.L72S, p.N103K, p.R105W, p.H118L, p.S141C, c.104_106delTCA, c ...
Inas Mazen, Khalda Amr, Sally Tantawy, I. Sadaf Farooqi, Mona El Gammal   +4 more
doaj   +1 more source

beta 0 thalassemia, a nonsense mutation in man. [PDF]

, 1979
Judy C. Chang, Y Kan
openalex   +1 more source

A Suppressor of Nonsense Mutations in Bacillus subtilis [PDF]

, 1974
Ana Camacho, José L. Carrascosa, Eladio Viñuela, Margarita Salas, Felipe Moreno   +4 more
openalex   +1 more source

A Novel Nonsense Mutation in Kindler Syndrome [PDF]

Journal of Investigative Dermatology, 2004
Has, Cristina, Bruckner-Tuderman, Leena
openaire   +3 more sources

A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome

Platelets, 2018
Gray platelet syndrome (GPS) is a rare, inherited bleeding disorder characterized by the defect of platelet α-granule. Up to date, these are only four studies identifying NBEAL2 gene correlated with GPS.
Lijuan Cao, Jian Su, Jiaming Li, Ziqiang Yu, Xia Bai, Zhaoyue Wang, Lijun Xia, Changgeng Ruan   +7 more
doaj   +1 more source

Temperature-Sensitive Nonsense Mutations in Essential Genes of Escherichia coli [PDF]

, 1973
David L. Beckman, Stephen Cooper
openalex   +1 more source

beta zero thalassemia in Sardinia is caused by a nonsense mutation. [PDF]

, 1981
Richard F. Trecartin, Stephen A. Liebhaber, Judy C. Chang, K Y Lee, Yuet Wai Kan, M. Furbetta, Andrea Angius, Antonio Cao   +7 more
openalex   +1 more source

A novel PAX6 nonsense mutation identified in an Iranian family with various eye anomalies

Journal of Current Ophthalmology, 2018
Purpose: The aim of this study was to detect the genetic defects in a large pedigree of affected individuals with various phenotypes of ocular anomalies including partial aniridia, congenital cataract, and nystagmus.
Ali Torkashvand, Masoomeh Mohebbi, Hassan Hashemi   +2 more
doaj  

Nonsense mutations of the ornithine decarboxylase structural gene of Neurospora crassa. [PDF]

, 1987
Rowland H. Davis, Lore V. Hynes, P Eversole-Cire   +2 more
openalex   +1 more source

Nonsense mutations in the Chlamydomonas chloroplast gene that codes for the large subunit of ribulosebisphosphate carboxylase/oxygenase [PDF]

, 1985
Robert J. Spreitzer, Michel Goldschmidt‐Clermont, Michèle Rahire, Jean‐David Rochaix   +3 more
openalex   +1 more source