Human Genetics,volume 111,issue 2  (08-2002)

Period of time： 2002年2期

Publisher： Springer Publishing Company

Founded in： 1913

Total resources： 46

ISSN： 0340-6717

Subject： Q3 Genetics

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Human Genetics,volume 111,issue 2

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DNA hypermethylation: when tumour suppressor genes go silent

By Garinis George,Patrinos George,Spanakis Nick,Menounos Panayiotis in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 115-127

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Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography

By Jee Sun,Song Kyung,Shim Won,Kim Hyun,Suh Il,Park Jung,Won So,Beaty Terri in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 128-135

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: novel exons, splice variants, and CAG repeat length stability

By Bruce Heather,Margolis Russell in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 136-144

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Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with mutations – phenotypic spectrum and frequencies of mutations in Austria

By Janecke Andreas,Hirst-Stadlmann Almut,Günther Barbara,Utermann Barbara,Müller Thomas,Löffler Judith,Utermann Gerd,Nekahm-Heis Doris in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 145-153

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Functional characterization of the new human GABA receptor mutation β3(R192H)

By Buhr Andreas,Bianchi Matt,Baur Roland,Courtet Philippe,Pignay Virginie,Boulenger Jean,Gallati Sabina,Hinkle David,Macdonald Robert,Sigel Erwin in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 154-160

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Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

By Yorifuji Tohru,Kawai Masahiko,Muroi Junko,Mamada Mitsukazu,Kurokawa Keiji,Shigematsu Yosuke,Hirano Satoko,Sakura Nobuo,Yoshida Ichiro,Kuhara Tomiko,Endo Fumio,Mitsubuchi Hiroshi,Nakahata Tatsutoshi in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 161-165

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Androgen receptor CAG polymorphism and prostate cancer risk

By Mononen Nina,Ikonen Tarja,Autio Ville,Rökman Annika,Matikainen Mika,Tammela Teuvo,Kallioniemi Olli-P.,Koivisto Pasi,Schleutker Johanna in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 166-171

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Evolution of a VNTR located within the promoter region of the thiopurine methyltransferase gene: inferences from population and sequence data

By Alves Sandra,Amorim António,Prata Maria in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 172-178

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Organization of the human liver carnitine palmitoyltransferase 1 gene () and identification of novel mutations in hypoketotic hypoglycaemia

By Gobin Stéphanie,Bonnefont Jean-Paul,Prip-Buus Carina,Mugnier Claude,Ferrec Magali,Demaugre France,Saudubray Jean-Marie,Rostane Hidayeth,Djouadi Fatima,Wilcox William,Cederbaum Stephen,Haas Richard,Nyhan William,Green Anne,Gray George,Girard Jean,Thuillier Laure in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 179-189

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Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.

By Thönnissen Eva,Rabionet Raquel,Arbonès Maria,Estivill Xavier,Willecke Klaus,Ott Thomas in (2002)

Human Genetics,volume 111,issue 2 , Vol. 111, Iss. 2, 2002-08 , pp. 190-197

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