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TypeTitleAuthor(s)YearViews
DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: A chance of 1 in 7.6 trillion
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Yan, MSC; Li, CK; Lau, KC; Tong, SF; Tang, HY2007142
 
A patient with novel ABCB11 gene mutations with phenotypic transition between BRIC2 and PFIC2
Journal:
Journal of Hepatology
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/jhep
Lam, CW; Cheung, KM; Tsui, MS; Yan, MSC; Lee, CY; Tong, SF2006163
 
Resequencing the G6PT1 gene reveals a novel splicing mutation in a patient with glycogen storage disease type 1b
Journal:
Clinica Chimica Acta
Publisher:
Elsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Lam, CW; Orrico, A; Yan, MSC; Law, TY; Galli, L; Benedetti, A; Tong, SF; Sorrentino, V2006148
 
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