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Results: 1-11 |
Results: 11
Mutation of proline 409 to arginine in the meander region of cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency
Authors: Lam, CW Arlt, W Chan, CK Honour, JW Lin, CJ Tong, SF Choy, KW Miller, WL
Citation: Cw. Lam et al., Mutation of proline 409 to arginine in the meander region of cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency, MOL GEN MET, 72(3), 2001, pp. 254-259
Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor
Authors: Lam, CW Yuen, YP Lai, CK Tong, SF Lau, LK Tong, KL Chan, YW
Citation: Cw. Lam et al., Novel mutation in the GRHPR gene in a Chinese patient with primary hyperoxaluria type 2 requiring renal transplantation from a living related donor, AM J KIDNEY, 38(6), 2001, pp. 1307-1310
Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis
Authors: Lam, CW Poon, PMK Tong, SF Ko, CH
Citation: Cw. Lam et al., Two novel CLN2 gene mutations in a Chinese patient with classical late-infantile neuronal ceroid lipofuscinosis, AM J MED G, 99(2), 2001, pp. 161-163
Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness
Authors: Kong, CK Ko, CH Tong, SF Lam, CW
Citation: Ck. Kong et al., Atypical presentation of dopa-responsive dystonia: Generalized hypotonia and proximal weakness, NEUROLOGY, 57(6), 2001, pp. 1121-1124
Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC
Authors: Lam, CW Poon, PMK Tong, SF Lo, AWI Lai, CK Choi, KL Tiu, SC Chan, YW Shek, CC
Citation: Cw. Lam et al., Novel mutation and polymorphisms of the HMBS gene detected by denaturing HPLC, CLIN CHEM, 47(2), 2001, pp. 343-346
Novel splicing mutation of the PPOX gene (IVS10+1G -> A) detected by denaturing high-performance liquid chromatography
Authors: Lam, CW Hui, KN Poon, PMK Luk, NM Yuen, YP Tong, SF Lai, CK Chan, YW Lo, KK
Citation: Cw. Lam et al., Novel splicing mutation of the PPOX gene (IVS10+1G -> A) detected by denaturing high-performance liquid chromatography, CLIN CHIM A, 305(1-2), 2001, pp. 197-200
Molecular genetic analysis of a Chinese patient with Fabry disease
Authors: Lam, CW Mak, YT Lo, YMD Tong, SF To, KF Lai, FMM
Citation: Cw. Lam et al., Molecular genetic analysis of a Chinese patient with Fabry disease, CHIN MED J, 113(2), 2000, pp. 186-188
Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography
Authors: Lam, CW Sin, SY Lau, ET Lam, YY Poon, P Tong, SF
Citation: Cw. Lam et al., Prenatal diagnosis of glycogen storage disease type 1b using denaturing high performance liquid chromatography, PRENAT DIAG, 20(9), 2000, pp. 765-768
MECP2 mutation in male patients with non-specific X-linked mental retardation
Authors: Orrico, A Lam, CW Galli, L Dotti, MT Hayek, G Tong, SF Poon, PMK Zappella, M Federico, A Sorrentino, V
Citation: A. Orrico et al., MECP2 mutation in male patients with non-specific X-linked mental retardation, FEBS LETTER, 481(3), 2000, pp. 285-288
A frequent activated smoothened mutation in sporadic basal cell carcinomas
Authors: Lam, CW Xie, JW To, KF Ng, HK Lee, KC Yuen, NWF Lim, PL Chan, LYS Tong, SF McCormick, F
Citation: Cw. Lam et al., A frequent activated smoothened mutation in sporadic basal cell carcinomas, ONCOGENE, 18(3), 1999, pp. 833-836
Definition of the correct sequence in the donor splice site of intron 2 inthe human glucose 6-phosphate translocase gene
Authors: Lam, CW Chan, BY Tong, SF
Citation: Cw. Lam et al., Definition of the correct sequence in the donor splice site of intron 2 inthe human glucose 6-phosphate translocase gene, FEBS LETTER, 445(2-3), 1999, pp. 449-450
Risultati: 1-11 |