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Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1508982030

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

About this item

Full title

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

Publisher

United States: Public Library of Science

Journal title

PloS one, 2014-03, Vol.9 (3), p.e90640-e90640

Language

English

Formats

Publication information

Publisher

United States: Public Library of Science

More information

Scope and Contents

Contents

An inactivating mutation in the GNAS gene causes either pseudohypoparathyroidism 1a (PHP1A) when it is maternally inherited or pseudopseudohypoparathyroidism (PPHP) when it is paternally inherited. We investigated clinical manifestations and mutations of the GNAS gene in ethnic Chinese patients with PHP1A or PPHP. Seven patients from 5 families inc...

Alternative Titles

Full title

Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_plos_journals_1508982030

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_plos_journals_1508982030

Other Identifiers

ISSN

1932-6203

E-ISSN

1932-6203

DOI

10.1371/journal.pone.0090640

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