(Q38287493)

1 September 2017

title

Pseudohypoparathyroidism type Ia: two new heterozygous frameshift mutations in exons 5 and 10 of the Gs alpha gene (English)

1 reference

Albright's hereditary osteodystrophy

1 September 2017

main subject

1 reference

1 reference

5

Z Farfel

1 reference

1 September 2017

H Shapira

1

1 reference

1 September 2017

M Mouallem

series ordinal

2

1 reference

1 September 2017

M S Shapiro

series ordinal

3

1 reference

1 September 2017

Y Weisman

series ordinal

4

1 reference

1 September 2017

publication date

1 January 1996

1 reference

1 September 2017

1 reference

1 September 2017

volume

97

1 reference

1 September 2017

issue

1

1 reference

1 September 2017

page(s)

73-75

1 reference

G protein mutations in human disease

1 September 2017

cites work

1 reference

12 December 2020

Immunochemical analysis of the alpha-subunit of the stimulatory G-protein of adenylyl cyclase in patients with Albright's hereditary osteodystrophy.

1 reference

12 December 2020

Mutations of the Gs alpha-subunit gene in Albright hereditary osteodystrophy detected by denaturing gradient gel electrophoresis

1 reference

12 December 2020

Multiple abnormalities of anterior pituitary hormone secretion in association with pseudohypoparathyroidism

1 reference

12 December 2020

1 reference

12 December 2020

Defect of Receptor–Cyclase Coupling Protein in Pseudohypoparathyroidism

1 reference

12 December 2020

Rapid GDP release from Gs alpha in patients with gain and loss of endocrine function

1 reference

12 December 2020

Mutation in the gene encoding the stimulatory G protein of adenylate cyclase in Albright's hereditary osteodystrophy

1 reference

12 December 2020

Isolation and characterization of the human Gs alpha gene

1 reference

12 December 2020

Pseudohypoparathyroidism type 1a presenting as congenital hypothyroidism

1 reference

12 December 2020

Substitution of three amino acids switches receptor specificity of Gq alpha to that of Gi alpha

1 reference

12 December 2020

Structural elements of G alpha subunits that interact with G beta gamma, receptors, and effectors

1 reference

12 December 2020

Deficient activity of guanine nucleotide regulatory protein in erythrocytes from patients with pseudohypoparathyroidism

1 reference

12 December 2020

Pseudohypoparathyroidism: inheritance of deficient receptor-cyclase coupling activity

1 reference

12 December 2020

Heterogeneous mutations in the gene encoding the alpha-subunit of the stimulatory G protein of adenylyl cyclase in Albright hereditary osteodystrophy

1 reference

12 December 2020

Characterization of a de novo 43-bp deletion of the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

1 reference

12 December 2020

A heterozygous 4-bp deletion mutation in the Gs alpha gene (GNAS1) in a patient with Albright hereditary osteodystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1007/BF00218836

1 reference

Dimensions Publication ID

1 September 2017

1031938422

0 references

1 reference