Pseudohypoparathyroidism type Ia (PHPIa) is caused by GNAS mutations leading to deficiency of the a-subunit of stimulatory G proteins (Gsa) that mediate signal transduction of G protein-coupled receptors via cAMP. PHP type Ic (PHPIc) and PHPIa share clinical features of Albright hereditary osteodyst
β¦ LIBER β¦
Clinical characterization and identification of two novel mutations of the GNAS gene in patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism
β Scribed by Hye Young Jin; Beom Hee Lee; Jin-Ho Choi; Gu-Hwan Kim; Jin-Kyung Kim; Jung Hyun Lee; Jeesuk Yu; Jae-Ho Yoo; Cheol Woo Ko; Han-Hyuk Lim; Hye Rim Chung; Han-Wook Yoo
- Book ID
- 108704889
- Publisher
- John Wiley and Sons
- Year
- 2011
- Tongue
- English
- Weight
- 107 KB
- Volume
- 75
- Category
- Article
- ISSN
- 0300-0664
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