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A Guide to Use of the Catalogs
Nature of basic defect
Appendices to the Foreword
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abnormal Acad Acta affected persons alleles amino acid amyloidosis anemia anomalies antigen Arch aspartic acid assignment associated ataxia atrophy autosomal dominant autosomal dominant inheritance beta Biochem Biophys Birth Defects Orig blood group bone Brit Cell Genet chromosome 16 Clin clinical collagen congenital Cytogenet daughter deafness deficiency dehydrogenase Derm described a family disease disorder distal dysplasia dystrophy Ehlers-Danlos syndrome enzyme factor family study father females fetal hemoglobin fibroblasts gene glutamic acid Haemat hemoglobin Hereditary human chromosome immunoglobulin interferon kinase kindred Lancet Lehmann linkage loci locus lod score lysine male-to-male transmission males malformation McKusick mitochondrial mother mouse multiple muscle mutation myopathy Neurol normal observed Ophthal patients Pediat pedigree personal communication phenotype polymorphism polypeptide proband Proc protein receptor recessive red cell renal reported sequence serum showed sibs sibships somatic cell hybrids structural Substitution suggested syndrome variant X-linked