Journal article icon

Journal article

GNAS1 mutational analysis in pseudohypoparathyroidism.

Abstract:

OBJECTIVE: Mutations of the GNAS1 gene, which is located on chromosome 20q13.11 and encodes the alpha-subunit of the stimulatory GTP-binding protein, have been identified in patients with pseudohypoparathyroidism type Ia (PHPIa) and pseudopseudohypoparathyroidism (PPHP). We have undertaken studies to determine the prevalence of GNAS1 mutations and to explore methods for their more rapid detection. METHODS: Thirteen unrelated families (8 with PHPIa and PPHP patients, and 5 with PPHP patients o...

Expand abstract
Publication status:
Published

Actions


Access Document


Authors


Expand authors...
Journal:
Clinical endocrinology
Volume:
49
Issue:
4
Pages:
525-531
Publication date:
1998-10-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:b744b2fa-eab5-47d1-83b5-b25176b641a9
Source identifiers:
7645
Local pid:
pubs:7645

Terms of use


Metrics


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP