Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy. [electronic resource]
- The Journal of clinical endocrinology and metabolism Sep 1999
- 3254-9 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
0021-972X
10.1210/jcem.84.9.5970 doi
Amino Acid Sequence Base Sequence Female Fibrous Dysplasia, Polyostotic--genetics Frameshift Mutation GTP-Binding Protein alpha Subunits, Gs--chemistry Gene Deletion Heterozygote Humans Infant, Newborn Male Pedigree Polymerase Chain Reaction Pseudohypoparathyroidism--genetics Pseudopseudohypoparathyroidism--genetics