The search for molecular defects in genetic disease. 1996

H Galjaard
Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands.

UI MeSH Term Description Entries
D011506 Proteins Linear POLYPEPTIDES that are synthesized on RIBOSOMES and may be further modified, crosslinked, cleaved, or assembled into complex proteins with several subunits. The specific sequence of AMINO ACIDS determines the shape the polypeptide will take, during PROTEIN FOLDING, and the function of the protein. Gene Products, Protein,Gene Proteins,Protein,Protein Gene Products,Proteins, Gene
D005796 Genes A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms. Cistron,Gene,Genetic Materials,Cistrons,Genetic Material,Material, Genetic,Materials, Genetic
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D030342 Genetic Diseases, Inborn Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. Hereditary Diseases,Genetic Diseases,Genetic Disorders,Hereditary Disease,Inborn Genetic Diseases,Single-Gene Defects,Defect, Single-Gene,Defects, Single-Gene,Disease, Genetic,Disease, Hereditary,Disease, Inborn Genetic,Diseases, Genetic,Diseases, Hereditary,Diseases, Inborn Genetic,Disorder, Genetic,Disorders, Genetic,Genetic Disease,Genetic Disease, Inborn,Genetic Disorder,Inborn Genetic Disease,Single Gene Defects,Single-Gene Defect

Related Publications

H Galjaard
January 1991, Research publications - Association for Research in Nervous and Mental Disease,
H Galjaard
December 2019, Current opinion in pediatrics,
H Galjaard
January 2000, Gynecologic and obstetric investigation,
H Galjaard
October 1966, Canadian Medical Association journal,
H Galjaard
November 2004, European journal of endocrinology,
H Galjaard
January 1995, Cellular & molecular biology research,
H Galjaard
December 1992, The Journal of clinical endocrinology and metabolism,
Copied contents to your clipboard!