Výsledky vyhledávání - "Chin Lai Tan"

Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms

Autor: Poh San Lai, Siok Yuen Kam, Woon Chee Yee, Irene Ai Lian Seah, Zacharias Aloysius Dwi Pramono, Joseph Shean Long See, Chin Lai Tan

Publikováno v: Human Genetics. 125:413-420

In conducting dysferlin mutational screening using blood mRNA instead of genomic DNA, we identified the occurrence of alternative splicing involving novel dysferlin exons, i.e. exons 5a and 40a, in addition to previously reported alternative splicing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9331095fd9de35d9e8ed8ed506d92826
https://doi.org/10.1007/s00439-009-0632-y

Zobrazit plný text záznamu

Identification and characterization of a novel human dysferlin transcript: dysferlin_v1

Autor: Chin Lai Tan, Shin’ichi Takeda, Poh San Lai, Zacharias Aloysius Dwi Pramono, Woon Chee Yee

Publikováno v: Human genetics. 120(3)

Mutations in the dysferlin (DYSF) gene are associated with limb girdle muscular dystrophy type 2B and Miyoshi myopathy. In this study, we report the identification and characterization of a novel dysferlin transcript that we named DYSF_v1 (GenBank ac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8a5bfff269535c92788f0b4d76bd7ab
https://pubmed.ncbi.nlm.nih.gov/16896923

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání