Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.

Heath, H; Odelberg, S; Jackson, C E; Teh, B T; Hayward, N; Larsson, C; Buist, N R; Krapcho, K J; Hung, B C; Capuano, I V; Garrett, J E; Leppert, M F

Heath, H; Odelberg, S; Jackson, C E; Teh, B T; Hayward, N; Larsson, C; Buist, N R; Krapcho, K J; Hung, B C; Capuano, I V; Garrett, J E; Leppert, M F.

Affiliation

Heath H; Department of Internal Medicine, University of Utah School of Medicine, Salt Lake City, 84132, USA.

J Clin Endocrinol Metab ; 81(4): 1312-7, 1996 Apr.

Article in En | MEDLINE | ID: mdl-8636323

Subject(s)

Calcium-Binding Proteins/genetics; Chromosomes, Human, Pair 3; Hypercalcemia/genetics; Multigene Family; Point Mutation; Polymorphism, Genetic; Amino Acid Sequence; Animals; Base Sequence; Calcium-Binding Proteins/biosynthesis; Calcium-Binding Proteins/physiology; Chromosome Mapping; DNA Transposable Elements; Exons; Female; Genetic Linkage; Humans; Hypercalcemia/urine; Male; Oocytes/physiology; Parathyroid Glands/metabolism; Pedigree; Protein Structure, Secondary; Recombinant Proteins/metabolism; Xenopus

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Collection: 01-internacional Database: MEDLINE Main subject: Polymorphism, Genetic / Chromosomes, Human, Pair 3 / Calcium-Binding Proteins / Multigene Family / Point Mutation / Hypercalcemia Limits: Animals / Female / Humans / Male Language: En Journal: J Clin Endocrinol Metab Year: 1996 Type: Article Affiliation country: United States

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