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43篇 您的检索式：期刊名="Hum Mut"

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	题名	作者	年代	出处	被引量
1	Racial differences in the frequencies of cardiac β1-adrenergic receptor polymor- phisms: analysis of c145A→G and c1165G→C显示文摘	MOORE JD MASON DA GREEN SA	1999	Hum Mut1999，14，3：	1
2	An update of the mutation spectrum of the survival motor neuron gene ( SMN1 ) in autosomal recessive spinal muscular atrophy(SMA) 显示文摘	Wirth B	2000	Hum Mut2000，15，3：	1
3	Large-scale genotyping of single nucleotide polymorphisms by PyrosequencingTM and validation against the 5' nuclease (Taqman assay显示文摘	Nordfors L Jansson M Sandberg G	2002	Hum Mut2002，19，4：	1
4	Evaluation of multiplex capillary heteroduplex analysis:a rapid and sensitive mutation screening technique显示文摘	Hoskins B E Thorn A Scambler P J	2003	Hum Mut2003，22，2：	1
5	Cystic fibrosis mutation by hybridization to light- generated DNA probe DNA arrays显示文摘	Fucini RV Kim SM	1996	Hum Mut1996，7，3：	1
6	Molecular Characterisation of Vietnamese HPFH显示文摘	Motum PI	1993	Hum Mut1993，2，：	1
7	Genotypephenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia 显示文摘	CHAN LY LAM C W MAK Y T	2002	Hum Mut2002，20，3：	1
8	显示文摘	Soussi T	2003	Hum Mut2003，21，：	1
9	Mitochondrial deafness mutations reviewed 显示文摘	Fischel-Ghodsian N	1999	Hum Mut1999，13，4：	1
10	How sensitive is PCR-SSCP显示文摘	HAYASHI K YANDELL DW	1993	Hum Mut1993，2，：	1
11	Single nucleotide polymorphisms (SNPs) and haplotype frequencies of CYP3A5 in a Japanese population 显示文摘	Saeki M Saito Y Nakamura T	2003	Hum Mut2003，21，6：	1
12	A Large Fraction of Unclassified Variants of the Mismatch Repair Genes MLH1 and MSH2 Is Associated With Splicing Defects 显示文摘	Tounuer I Vezain M Martins A	2008	Hum Mut2008，29，12：	1
13	Twenty-four novel mutations in wilson disease patients of predominantly european ancestry显示文摘	Coxl DW	2005	Hum Mut2005，26，3：	1
14	Two novel mutations ofthe AIRE protein affecting it homodimerizationproperties显示文摘	Meloni A Fiorillo E Corda D	2005	Hum Mut2005，25，3：	1
15	Genotype-phenotype studies of six novel LPL mutations in Chinese patients with hypertriglyceridemia显示文摘	Chan LY Lam CW Mak YT	2002	Hum Mut2002，20，3：	1
16	Ryanodine receptor mutations in malignant hyperthermia and central core disease显示文摘	Quane KA Lynch PJ	2000	Hum Mut2000，15，：	1
17	Reverse dot blot probes for screening of β- thalassemia Mutationsin Asians and American blacks显示文摘	Cai SP Wall J Kan YW	1994	Hum Mut1994，3，1：	1
18	Genotype phenotype studies of six novel LPL mutations in Chinese patients with hypertrigly-ceridemia 显示文摘	Chart LY Lain CW Mak YT	2002	Hum Mut2002，20，3：	1
19	Mutations of the human polycystic kidney disease 2(PKD2)gene 显示文摘		2001	Hum Mut2001，18，1：	1
20	A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects显示文摘	Tournier I Vezain M Martins A	2008	Hum Mut2008，29，12：	1

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