Biomaterial Database

Asp700 RFLP at the D8S45 locus. 1990

B Horsthemke, and R Burdiek, and H J Lüdecke

Institut für Humangenetik, Universitätsklinikum Essen, FRG.

UI	MeSH Term	Description	Entries
D012150	Polymorphism, Restriction Fragment Length	Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment.	RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002898	Chromosomes, Human, Pair 8	A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.	Chromosome 8
D005799	Genes, Dominant	Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.	Conditions, Dominant Genetic,Dominant Genetic Conditions,Genetic Conditions, Dominant,Condition, Dominant Genetic,Dominant Gene,Dominant Genes,Dominant Genetic Condition,Gene, Dominant,Genetic Condition, Dominant
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015826	Langer-Giedion Syndrome	Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses. INTELLECTUAL DISABILITY and abnormalities of chromosome 8 are often present. The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).	Acrodysplasia V,Giedion-Langer Syndrome,Trichorhinophalangeal Syndrome Type II,TRPSII,Tricho-Rhino-Phalangeal Syndrome Type II,Trichorhinophalangeal Syndrome Type 2,Trichorhinophalangeal Syndrome with Exostoses,Trichorhinophalangeal Syndrome, Type II,Acrodysplasia Vs,Giedion Langer Syndrome,Langer Giedion Syndrome,Syndrome, Giedion-Langer,Syndrome, Langer-Giedion,Tricho Rhino Phalangeal Syndrome Type II