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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, ISSN 1003-9406, 10/2005, Volume 22, Issue 5, p. 577
To investigate the polymorphism of DXYS267 locus in China Han population and find the application and characters of its Y-specific single nucleotide... 
Chromosomes, Human, Y - genetics | Chromosomes, Human, X - genetics | Base Sequence | Gene Frequency | Humans | Polymerase Chain Reaction | Molecular Sequence Data | Female | Genotype | Male | Polymorphism, Single Nucleotide | Tandem Repeat Sequences - genetics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 07/1991, Volume 28, Issue 7, pp. 458 - 463
We have studied a patient with Ehlers-Danlos syndrome type IV. Protein mapping studies of her type III collagen had indicated that cyanogen bromide fragment 9... 
PROCOLLAGEN GENE | HETEROGENEITY | COL3A1 | PROTEIN | AORTIC-ANEURYSMS | GENETICS & HEREDITY | ALPHA-1(III) CHAIN | PHENOTYPE | PERINATAL OSTEOGENESIS IMPERFECTA | SINGLE BASE MUTATION | DISORDERS
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2002, Volume 87, Issue 2, pp. 870 - 876
Postmortem examinations of the hypothalamus of patients with autosomal dominant neurohypophyseal diabetes insipidus (adNDI), which have been reported only on... 
T1-WEIGHTED MR-IMAGES | ARGININE-VASOPRESSIN | SIGNAL PEPTIDE MUTATION | CODING REGION | ENDOCRINOLOGY & METABOLISM | MAGNETIC-RESONANCE | MISSENSE MUTATION | POSTERIOR PITUITARY | II GENE | ENDOPLASMIC-RETICULUM | SINGLE-BASE SUBSTITUTION
Journal Article
Journal Article
ONCOGENE, ISSN 0950-9232, 10/1994, Volume 9, Issue 10, pp. 3025 - 3029
Recently identified mutations affecting different domains of the RET proto-oncogene are associated with Multiple Endocrine Neoplasia type 2A (MEN 2A) and type... 
POINT MUTATIONS | ONCOLOGY | BIOCHEMISTRY & MOLECULAR BIOLOGY | LINE | SINGLE BASE SUBSTITUTIONS | MISMATCHES | PROTOONCOGENE | CELL BIOLOGY
Journal Article
ELECTROPHORESIS, ISSN 0173-0835, 10/2010, Volume 31, Issue 20, pp. 3446 - 3449
Partial strand melting of dsDNA during gel electrophoresis typically results in an abrupt reduction of mobility. Several DNA analysis technologies are based on... 
Denaturing gel electrophoresis | CHEMISTRY, ANALYTICAL | SINGLE-BASE SUBSTITUTIONS | SIZE | BIOCHEMICAL RESEARCH METHODS | SEGREGATION | BULGES | NUCLEIC-ACIDS | MOLECULES | FRAGMENTS | DNA gel electrophoresis | SEQUENCE | POLYACRYLAMIDE | MISMATCHES | DNA denaturation | Electrophoretic mobility modeling
Journal Article
Journal of Rheumatology, ISSN 0315-162X, 04/2004, Volume 31, Issue 70, pp. 16 - 21
Journal Article
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/1991, Volume 28, Issue 11, pp. 757 - 764
Journal Article
HUMAN MUTATION, ISSN 1059-7794, 1997, Volume 9, Issue 5, pp. 465 - 472
A scanning strategy for the detection of delta-globin gene mutations and polymorphisms is presented. This procedure is based on the denaturing gradient gel... 
SINGLE-BASE CHANGES | DNA FRAGMENTS | GREEK CYPRIOTS | delta-globin mutations | GRADIENT GEL-ELECTROPHORESIS | VARIANT | delta-globin gene | SEQUENCE ANALYSIS | MUTATION | GENETICS & HEREDITY | GC-CLAMP | POLYMERASE CHAIN-REACTION | HUMAN BETA-GLOBIN | DGGE | promoter mutations
Journal Article
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