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HExDB: Human EXon DataBase for Alternative Splicing Pattern Analysis

Park J, Lee M, Bhak J

  • KMID: 1572678
  • Genomics Inform.
  • 2005 Sep;3(3):80-85.
HExDB is a database for analyzing exon and splicing pattern information in Homo sapiens. HExDB is useful for specific purposes: 1) to design primers for exon amplification from cDNA and...
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Gene rearrangement of specific exons of immunoglobulin heavy chain joining region in B- lymphoid leukemias

Park CJ, Cho HC, Uhmacher J

  • KMID: 1688373
  • Korean J Hematol.
  • 1993 Nov;28(2):307-312.
No abstract available.
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Mutational Analysis of JAK1 Exons 10 and 13 in Non-small Cell Lung Cancers

Oh JE, Yoon HK, Woo IS, Kim SJ, Yoo NJ, Lee SH

PURPOSE : JAK kinases play important roles not only in normal cellular processes, but they are also important in tumor development. A recent study identified two somatic mutations of JAK1...
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Genomic Identification of N-Trminal Domail Exons of Carcinoembryonic Antigen in Human Colon Carcinoma

Kim JC, Noh SA, Park KC, Jung IK

  • KMID: 2006860
  • J Korean Cancer Assoc.
  • 1998 Aug;30(4):675-682.
No abstract available.
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Analysis of Complete Exons and Flanking Introns of ABO Gene in Korean B(3) Blood Donors

Lee SG, Cho D, Jeon MJ, Song JW, Shin MG, Shin JH, Suh SP, Ryang DW

  • KMID: 2254107
  • Korean J Blood Transfus.
  • 2006 Dec;17(2):97-105.
BACKGROUND: There have been several studies aimed at determining the presence of the B(3) specific alleles in Korean B(3) blood donors. However, in these samples, only consensus exons 6 and...
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Characterization and Prognostic Value of Mutations in Exons 5 and 6 of the p53 Gene in Patients with Colorectal Cancers in Central Iran

Golmohammadi R, Namazi MJ, Nikbakht M, Salehi M, Derakhshan MH

BACKGROUND/AIMS: We aimed to investigate the relation-ships among various mutations of the p53 gene and their protein products, histological characteristics, and disease prognosis of primary colorectal cancer in Isfahan, central...
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The Aberrant Expression of FHIT Transcripts in Uterine Cervical Cancer using Laser-capture Microdissection

Choi SC, Kim BG, Bae DS, Moon HB

  • KMID: 2272681
  • Korean J Obstet Gynecol.
  • 2005 Sep;48(9):2140-2147.
OBJECTIVE: This study was performed to determine the exact pattern of FHIT expression of the cervical carcinoma cell per se by microdissection and to investigate the clinical significance of the...
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Prenatal Diagnosis of Duchenne Muscular Dystrophy (DMD) by Multiplex Polymerase Chain Reaction (PCR) with Chorionic Villi

Lee KW, Yoon SW, Chang WS, Kim JY, Lee SH, Lee SJ, Kim SD, Han JS

  • KMID: 2269871
  • Korean J Obstet Gynecol.
  • 1999 Sep;42(9):2028-2032.
OBJECTIVE: To evaluate the efficacy of prenatal multiplex PCR with chorionic villi, in the case of family history of DMD due to exon deletion. METHODS: DNA was extracted when cells'...
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A Comparative Study of Immunohistochemistry and PCR-SSCP for Detection of p53 Mutation In Gastric Carcinoma

Kim JS, Lee JH, Lee MC, Park CS, Juhung SW

  • KMID: 1725340
  • Korean J Pathol.
  • 1998 Jan;32(1):21-28.
Mutation of the p53 tumor-suppressor gene in exons 4 through 9 was examined in 34 cases of primary advanced gastric cancer using PCR-SSCP (polymerase chain reaction-single strand conformation polymorphism) and...
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Gastrointestinal Stromal Tumors associated with Neurofibromatosis Type I: A Report of Two Cases

Kim JH, In OS, Lee SK, Baik HW, Kim SH, Kang DW, Kim KH, Park MJ, Kim YI

  • KMID: 2277683
  • Korean J Pathol.
  • 2006 Apr;40(2):137-141.
Gastrointestinal stromal tumor (GIST) is the most common non-epithelial neoplasm arising in the gastrointestinal tract, but this tumor is rarely seen in association with type 1 neurofibromatosis (NF-1). We report...
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Pattern of Exon Deletions of Dystrophin Gene in Korean Patients with Duchenne Muscular Dystrophy

Kang KJ, Han SS, Woo YJ, Kim MH, Choi C

  • KMID: 2323371
  • J Korean Acad Rehabil Med.
  • 2000 Feb;24(1):93-99.
OBJECTIVE: To investigate the pattern of exon deletions in Korean patients with Duchenne muscular dystrophy (DMD), and to find the correlation of the exon-deletion with clinical symptoms or laboratory findings. METHOD:...
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New Splicing Variants of the Murine Damaged DNA Binding 2

Park JH, Nam Y, Kwon J, Suh JG

Damaged DNA binding (DDB) protein is an important gene in the repair of damaged DNA. DDB is a heterodimer (DDB1 and DDB2) protein, murine DDB2 has 10 exons about 1.5kb...
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Molecular genetic characterization of alternatively spliced CD44 transcripts in human stomach carcinoma

Kim YS, Chi SG, Kim YW, Park YK, Yoon C

CD44 is a member of cell surface glycoproteins which are involved in cell-matrix adhesion and tumor metastasis. Certain types of tumors express complex CD44 isoforms generated by alternative splicing...
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Novel Non-contiguous Duplications in the DMD Gene in Five Patients with Duchenne Muscular Dystrophy

Rim JH, Cho SM, Yu N, Lee KA

BACKGROUND: Muscular dystrophy is an X-linked recessive disorder caused by mutations in the DMD gene. Muscular dystrophy is classified into 2 types; Duchenne muscular dystrophy (DMD), which has severe clinical...
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Absence of TaqI Polymorphism in Exons of Complement Component C9 Gene in Koreans

Han S, Kim SH

  • KMID: 2275601
  • Korean J Pathol.
  • 2001 Jun;35(3):185-188.
BACKGROUND: Molecular and genetic studies of the complement component C9 have never been reported in Korea. METHODS: We have checked the TaqI polymorphism of the C9 gene in 52 randomly...
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Diagnosis of DMD/BMD by Multiplex PCR and Southern Blot Analysis

Lee SH, Han JH, Kwak IP, Cha KE, Cho SW, Han SY, Keun KN, Park C, Cha KY

  • KMID: 1924389
  • Korean J Obstet Gynecol.
  • 1997 May;40(5):1030-1036.
Duchene and Becker muscular dystrophy(DMD/BMD) results from mutations in thedystrophin gene, and enormous genetic locus that spans more than two million base paris ofDNA on the human X chromosome. ...
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p53 Gene Mutations in Bladder Cancer (I): Comparative Analysis by Immunohistochemistry and DNA Sequencing

Park SH, Moon WC

  • KMID: 2060641
  • Korean J Urol.
  • 1996 Aug;37(8):837-846.
Background. p53 gene mutations are known to play an important role in the progression of bladder cancer. Immunohistochemistry (IHC) has been used routinely to analyze p53 gene mutations by identifying...
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Sequence Analysis of the Human Tyrosinase Gene in Korean

Park KC, Kim KH

BACKGOUND: Because heterogeneity of the human tyrosinase gene has been reported, it is of vital significance to know the correct nucleotide sequence of tyrosinase in Koreans in order to study...
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A Case of G-6-PD Guadalajara

Lee GB, Lee SJ, Kim YJ, Kim SY, Kim HH, Cho B, Lee W

  • KMID: 2278890
  • Korean J Pediatr.
  • 2004 Feb;47(2):210-213.
Glucose-6-phosphate dehydrogenase(G-6-PD) deficiency is a disease that shows hemolytic anemia and jaundice caused by injury of erythrocytes. The gene of G-6-PD has 13 exons and locates in Xq28, and over...
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Analysis of Inversions and Deletions in Factor VIII Gene from Hemophilia A Patients

Park DH, Choi OH, Kim CM, Kim IJ, Han JY

  • KMID: 2262461
  • Korean J Obstet Gynecol.
  • 2001 Dec;44(12):2177-2183.
OBJECTIVE: For development of a direct analysis method for hemophilia A, mutational analysis of F8C carried out. METHODS: The molecular analysis of F8C gene was done using DNA isolated from...
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