A family of pseudohypoparathyroidism type Ia with an 850-kb submicroscopic deletion encompassing the whole GNAS locus
| Autor: | Keisuke Nagasaki, Satoshi Narumi, Tomohiro Ishii, Tomonobu Hasegawa, Toshikatsu Mitsui, Masaki Takagi |
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| Rok vydání: | 2011 |
| Předmět: |
Male
Genetics Comparative Genomic Hybridization Adolescent biology Locus (genetics) Pedigree Phenotype Genetic Loci Pseudohypoparathyroidism Chromogranins GTP-Binding Protein alpha Subunits Gs Twins Dizygotic GNAS complex locus biology.protein Humans Pseudohypoparathyroidism type Ia Female Gene Deletion Genetics (clinical) |
| Zdroj: | American Journal of Medical Genetics Part A. :261-264 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.34393 |
| Popis: | A Family of Pseudohypoparathyroidism Type Ia With an 850-kb Submicroscopic Deletion Encompassing the Whole GNAS Locus Toshikatsu Mitsui, Keisuke Nagasaki, Masaki Takagi, Satoshi Narumi, Tomohiro Ishii, and Tomonobu Hasegawa* Department of Pediatrics, Keio University School of Medicine, Tokyo Japan Division of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medicine and Dental Sciences, Niigata, Japan |
| Databáze: | OpenAIRE |
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