검색결과 : 5건
| No. | Article |
|---|---|
| 1 |
A novel missense mutation of RPGR identified from retinitis pigmentosa affects splicing of the ORF15 region and causes loss of transcript heterogeneity Liu YS, Pan JQ, Wan JF, Ren CY, Xu ZH, Pan XB, Gao RN, Liu SQ, Zhang JL, Yao QH, Wang JH, Li EM, Rao JH, Hou P, Chen JH Biochemical and Biophysical Research Communications, 531(2), 172, 2020 |
| 2 |
Identification and functional characterization of a novel splicing mutation in RP gene PRPF31 Liu JY, Dai XH, Sheng JQ, Cui X, Wang X, Jiang XQ, Tu X, Tang ZH, Bai Y, Liu MG, Wang QK Biochemical and Biophysical Research Communications, 367(2), 420, 2008 |
| 3 |
Hypermethylation of the wild-type ferrochelatase allele is closely associated with severe liver complication in a family with erythropoietic protoporphyria Onaga Y, Ido A, Uto H, Hasuike S, Kusumoto K, Moriuchi A, Numata M, Nagata K, Hori T, Hayashi K, Tsubouchi H Biochemical and Biophysical Research Communications, 321(4), 851, 2004 |
| 4 |
Splicing mutation of the prostacyclin synthase gene in a family associated with hypertension Nakayama T, Soma M, Watanabe Y, Hasimu B, Sato M, Aoi N, Kosuge K, Kanmatsuse K, Kokubun S, Marrow JD, Oates JA Biochemical and Biophysical Research Communications, 297(5), 1135, 2002 |
| 5 |
A novel catalase mutation detected by polymerase chain reaction-single strand conformation polymorphism, nucleotide sequencing, and Western blot analyses is responsible for the type C of Hungarian acatalasemia Goth L, Rass P, Madarasi I Electrophoresis, 22(1), 49, 2001 |