スポンサーリンク
Japan Society of Human Genetics | 論文
- A NOVEL MUTATION IN L1CAM GENE IN A JAPANESE PATIENT WITH X-LINKED HYDROCEPHALUS
- Detection of Variation in the Ribosomal RNA Gene Clusters by a Modified Fluorescence In Situ Hybridization Method
- MITOCHONDRIAL DISORDERS
- Direct Mapping of the Human TATA Box-Binding Protein(TBP) Gene to 6q27 by Fluorescence In Situ Hybridization
- C TO T TRANSITION AT THE FIRST NUCLEOTIDE OF CODON 63 OF THE β-GLOBIN GENE CORRESPONDING TO HEMOGLOBIN M-SASKATOON IN AN INDONESIAN BOY
- COMPARISON OF INSERTION RATE OF L1 RETROPOSON INTO INTRON 30 OF THE NEUROFIBROMATOSIS TYPE 1 GENE IN SEVEN ASIAN AND PACIFIC POPULATIONS
- A COMPREHENSIVE METHOD TO SCAN FOR POINT MUTATIONS OF THE GLUCOSE 6 PHOSPHATE DEHYDROGENASE GENE
- DNA-BASED PRENATAL DIAGNOSIS OF A KOREAN FAMILY WITH TYROSINASE-RELATED OCULOCUTANEOUS ALBINISM (OCA1)
- ASSIGNMENT OF THE HUMAN UDP-GalNAc : POLYPEPTIDE, N-ACETYLGALACTOSAMINYLTRANSFERASE-TYPE-2 GENE TO CHROMOSOMAL REGION 1q42 BY FLUORESCENCE IN SITU HYBRIDIZATION
- Molecular Genetic Study of a Japanese Family with Lesch-Nyhan Syndrome--A Point Mutation at the Concensus Region of RNA Splicing
- MOLECULAR ANALYSIS OF EXTRACELLULAR-SUPEROXIDE DISMUTASE GENE ASSOCIATED WITH HIGH LEVEL IN SERUM
- A RECURRENT 1992delCT MUTATION OF THE TYPE X COLLAGEN GENE IN A JAPANESE PATIENT WITH SCHMID METAPHYSEAL CHONDRODYSPLASIA
- MUCOPOLYSACCHARIDOSIS IVA : A NOVEL SPLICE ACCEPTOR SITE MUTATION IN INTRON 4 OF THE N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE GENE IN AN AFGHANISTAN GIRL WITH CLASSICAL MORQUIO DISEASE
- A NAGER ACROFACIAL DYSOSTOSIS SYNDROME PATIENT WITH SEVERE RESPIRATORY DISTRESS SYNDROME (RDS)
- PI※Siiyama, a Deficiency Gene of Alpha1-Antitrypsin--Evidence for the Occurrence in Western Japan
- PHYSICAL MAP OF A YAC CONTIG CONTAINING THE REGION OF THE HUMAN GENE (HYRC) COMPLEMENTING HYPER-RADIOSENSITIVITY OF THE SCID MOUSE MUTATION
- IDENTIFICATION OF AN HLA-DQ6-DERIVED PEPTIDE RECOGNIZED BY MOUSE MHC CLASS I H-2D^b-RESTRICTED CD8^+ T CELLS IN HLA-DQ6 TRANSGENIC MICE
- A NOVEL DE NOVO MUTATION IN HPRT GENE RESPONSIBLE FOR LESCH-NYHAN SYNDROME (HPRT_)
- DELETION OF TWENTY SEVEN NUCLEOTIDES WITHIN EXON 11 OF THE BAND 3GENE IDENTIFIED IN OVALOCYTOSIS IN LOMBOK ISLAND, INDONESIA
- DETECTION OF CHROMOSOMAL ABNORMALITIES OF CHROMOSOME 12 IN UTERINE LEIOMYOMA USING FLUORESCENCE IN SITU HYBRIDIZATION