Comprehensive screening of CREB-binding protein gene mutations among patients with Rubinstein-Taybi syndrome using denaturing high-performance liquid chromatography
スポンサーリンク
概要
- 論文の詳細を見る
- 2005-12-01
著者
-
MAKITA Yoshio
Department of Pediatrics, Asahikawa Medical Collage
-
Makita Yoshio
Department Of Pediatrics Asahikawa Medical College
-
Matsubara Yoichi
東北大学 医学系研究科遺伝病学分野
-
OKAMOTO Nobuhiko
Department of Planning and Research, Osaka Medical Center and Research Institute for Maternal and Ch
-
MIZUNO Seiji
Department of Pediatrics, Central Hospital, Aichi Human Service Center
-
TAKAHASHI Takao
Department of Surgical Oncology, Gifu University
-
Kohno Yoichi
Department Of Pediatrics Graduate School Of Medicine Chiba University
-
Kohno Yoichi
Pediatrics Graduate School Of Medicine Chiba University
-
KOSAKI Rika
Department of Pediatrics, Keio University School of Medicine
-
KOSAKI Kenjiro
Department of Pediatrics, Keio University School of Medicine
-
UDAKA TORU
Department of Pediatrics, Keio University School of Medicine
-
Mizuno Seiji
Department Of Pediatrics Central Hospital Aichi Human Service Center
-
Mizuno Seiji
Department Of Applied Physics Hokkaido University
-
Udaka Toru
Department Of Pediatrics Keio University School Of Medicine
-
Kosaki Rika
Department Of Pediatrics Keio University School Of Medicine
-
Kosaki Kenjiro
Department Of Pediatrics Keio University School Of Medicine
-
NUMABE Hironao
Department of Peadiatrics, Tokyo Medical University
-
Numabe Hironao
Department Of Pediatrics Tokyo Medical University
-
Numabe Hironao
Department Of Peadiatrics Tokyo Medical University
-
SAMEJIMA Hazuki
Department of Pediatrics, Keio University School of Medicine
-
KUROSAWA KENJI
Department of Pediatrics, Institute of DNA Medicine, Jikei University School of Medicine
-
Kurosawa Kenji
Department Of Medical Genetics Kanagawa Children's Medical Center
-
Matsubara Y
Department Of Medical Genetics Tohoku University School Of Medicine
-
Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
-
TORAL Joaquin
Division of Pediatric Genetics, Oviedo University Hospital
-
Takahashi Takao
Department Of Breast Oncology Saitama International Medical Center Saitama Medical University
-
Kosaki Rika
Department Of Clinical Genetics And Molecular Medicine National Center For Child Health And Developm
-
Kurosawa Kenji
Division Of Medical Genetics Clinical Research Institute Kanagawa Children's Medical Center
-
Toral Joaquin
Division Of Pediatric Genetics Oviedo University Hospital
-
YAMAGUCHI Koichi
Japanese Society of Pediatric Allergy and Clinical Immunology
-
Samejima Hazuki
Department Of Pediatrics Keio University School Of Medicine
-
Okamoto N
Osaka Medical Center And Res. Inst. Maternal And Child Health Osaka Jpn
-
Okamoto Nobuhiko
Department Of Planning And Research Osaka Medical Center And Research Institute For Maternal And Chi
-
Yamaguchi Koichi
Division Of Allergy National Center For Children Health And Development
-
Numabe Hironao
Department Of Medical Genetics Kyoto University Hospital
-
Okamoto Nobuhiko
Department Of Molecular Cytogenetics Medical Research Institute And School Of Biomedical Science Tokyo Medical And Dental University
-
Kosaki Rika
Division Of Medical Genetics National Center For Child Health And Development
-
OKAMOTO Nobuhiko
Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health
関連論文
- Association of SLC6A9 Gene Variants with Human Essential Hypertension
- 43 Common origin of the Q258X mutation in StAR gene responsible for congenital aderenal lipoid hyperplasia in Japanese
- 日本人小児の Hemophilus influenzae type b 抗芙膜多糖体抗体価に関する検討
- Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome
- A novel KCNQ4 one-base deletion in a large pedigree with hearing loss : implication for the genotype-phenotype correlation
- A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
- Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia
- Genotyping of Single Nucleotide Polymorphisms (SNPs) Influencing Drug Response by Competitive Allele-specific Short Oligonucleotide Hybridization (CASSOH) with Immunochromatographic Strip
- Novel IRF6 mutations in Japanese patients with Van der Woude Syndrome : two missense mutations (R45Q and P396S) and a 17-kb deletion
- Lack of evidence for a significant association between nonsyndromic cleft lip with or without cleft palate and the retinoic acid receptor alpha gene in the Japanese population