Genetic and biochemical heterogeneity in patients with the rhizomelic form of chondrodysplasia punctata : a complementation study

The genetic relationship between 10 patients with clinical manifestations of rhizomelic chondrodysplasia punctata (RCDP) was studied by complementation analysis after somatic cell fusion. Biochemically, 9 out of the 10 patients were characterized by a partial deficiency of acyl-CoA: dihydroxyacetone...

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Veröffentlicht in:	Human genetics 1992-06, Vol.89 (4), p.439-444
Hauptverfasser:	HEIKOOP, J. C, WANDERS, R. J. A, STRIJLAND, A, PURVIS, R, SCHUTGENS, R. B. H, TAGER, J. M
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetyl-CoA C-Acyltransferase - metabolism acyl-CoA:dihydroxyacetone phosphate acyltransferase Acyltransferases - deficiency Acyltransferases - genetics Acyltransferases - metabolism Alkyl and Aryl Transferases Biological and medical sciences Cell Fusion Cell Line Chondrodysplasia Punctata - genetics Chondrodysplasia Punctata - metabolism complementation deficiency Diseases of the osteoarticular system Genetic Complementation Test heterogeneity Humans Immunoblotting Malformations and congenital and or hereditary diseases involving bones. Joint deformations man Medical sciences Microscopy, Fluorescence Phytanic Acid - metabolism Plasmalogens - biosynthesis rhizomelic chondrodysplasia punctata Transferases - deficiency Transferases - genetics Transferases - metabolism
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