Abnormal collagen in ataxia telangiectasia.
Ataxia telangiectasia has been associated with varying clinical and laboratory abnormalities of the cutaneous, immune, neurological, and endocrine systems. Recently, a primary defect in tissue differentiation has been proposed as a probable cause of the disease. The presence of biochemically abnormal collagen in the skin of two siblings with the disease may further support this hypothesis.
D000596:Amino Acids / Q000032:analysis; D001260:Ataxia Telangiectasia / Q000150:complications / Q000209:etiology* / Q000235:genetics; D003094:Collagen / Q000032:analysis*; D003095:Collagen Diseases / Q000150:complications*; D005260:Female; D006801:Humans; D006901:Hydroxylysine / Q000172:deficiency; D007153:Immunologic Deficiency Syndromes / Q000209:etiology; D012867:Skin / Q000032:analysis
D000596:Amino Acids; D006901:Hydroxylysine; D003094:Collagen