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Mendelian Inheritance in Man: Catalogs of Autosomal Dominant, Autosomal Recessive and X-Linked Phenotypes, 4th ed
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References
1976
Year
Autosomal DominantGeneticsGenetic EpidemiologyPathologyMolecular VariantsInherited DiseaseDisease Gene IdentificationMendelian InheritanceGenetic MedicineClinical GeneticsPurine MetabolismGenetic DiseasesMendelian DisorderPublic HealthVariant InterpretationMonogenic DisordersInherited Metabolic DiseaseMolecular MedicineRare DiseasesComplex Trait GeneticsDevelopmental BiologyMolecular Diagnostic TechniquesX-linked PhenotypesGenetic DisorderMetabolic DiseaseMendelian RandomizationMedical GeneticsMedicineLysosomal Storage Disease
Molecular Variants in Disease (Symposium or-national policy for the management of inherited disease ganized by The Royal College of Pathologists is suggested.But the complex organization proposed delivered in London in February 1974).Edited will have to be carefully examined to determine whether by D. N. Raine.(Pp. 166; illustrated.£3-00.)its cost can be justified by improvements in diagnosis Published for The Royal College of Pathologists by and treatment.The circulation of a register of centres the J7ournal of Clinical Pathology, B.M.A. House, that are able to provide information and help to paedia- London. 1974.tricians dealing with suspected cases of inherited dis- Elucidation of the primary enzyme or protein abnorm-orders might be a cheaper though adequate alternative ality of many inherited disorders has been achieved in at present. the past 10 years and this useful book contains a selection ROLAND ELLIS of these studies.There are detailed accounts of the mucopolysaccharidoses, lipidoses, and glycogen storage disorders.The Lesch-Nyhan syndrome and other dis-Mendelian Inheritance in Man: Catalogs of Auto- orders of purine metabolism are reviewed and there is an somal Dominant, Autosomal Recessive and interesting account ofvitamin-responsive genetic disease.X-Linked Phenotypes, 4th ed.By Victor A. Haemoglobinopathies and erythrocyte enzyme deficien- McKusick.(Pp.lxxx+837; £9 60.)London and cies are also considered in some detail.Though