Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Kent K.S. Lai"'
Autor:
Ho Ming Luk, David K H Chan, Ivan F M Lo, Connie O.Y. Fung, Tony M F Tong, Stephen T.S. Lam, Kent K.S. Lai, Edgar W L Hau, Albert C.F. Lam, Daniel H C Chan
Publikováno v:
Journal of Genetics and Genomics. 39:191-194
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8d095e58841d045037277f35125a9a84
https://doi.org/10.1016/j.jgg.2012.02.005
https://doi.org/10.1016/j.jgg.2012.02.005
Publikováno v:
Chinese Medical Journal. 119:1079-1087
Background Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are X-linked recessive, allelic disorders. This study was conducted to look into the spectrum of DMD gene mutations in Hong Kong Chinese patients with Duchenne or Becker
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0895584d15529e3aa5d4bb6eb4a6822e
https://doi.org/10.1097/00029330-200607010-00004
https://doi.org/10.1097/00029330-200607010-00004
Publikováno v:
Clinical biochemistry. 39(4)
Objectives: To evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in comparison with the traditional multiplex PCR assay in detection of exon deletions and duplications of the DMD gene. Design and methods: The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cdf7075be4a5c9e3f93cddf9ab194a15
https://pubmed.ncbi.nlm.nih.gov/16413013
https://pubmed.ncbi.nlm.nih.gov/16413013
Publikováno v:
Clinical biochemistry. 39(3)
Objectives: (1) To evaluate the prevalence of subtelomeric deletion in moderate to severe mental retardation population, (2) to assess the feasibility and cost-effectiveness of combined methodology in routine workup of this sub-population. Method: Tw
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96cf4e2b6610e7960c25f3ea5bb5cc2f
https://pubmed.ncbi.nlm.nih.gov/16497288
https://pubmed.ncbi.nlm.nih.gov/16497288