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Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Korean J Pediatr. 2014;57(5):240-244.   Published online May 31, 2014
DOI: https://doi.org/10.3345/kjp.2014.57.5.240

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Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia
Korean Journal of Pediatrics. 2014;57(5):240   Crossref logo
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Identification of a Novel Mutation in a Family with Pseudohypoparathyroidism Type 1a
Case Reports in Endocrinology. 2018;2018:1-4   Crossref logo
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New mutation type in pseudohypoparathyroidism type Ia
Clinical Endocrinology. 2008;69(5):705-712   Crossref logo
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Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum ofGNASInactivating Mutations
Human Mutation. 2013;34(3):411-416   Crossref logo
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Pseudohypoparathyroidism type Ia manifesting as intractable epilepsy in a 23-year-old female
International Medical Case Reports Journal. 2012;49   Crossref logo
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Intracardiac calcifications in a case of pseudohypoparathyroidism type Ia (PHP-Ia)
Pediatric Cardiology. 1992;13(4):237-239   Crossref logo
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MON-252 An Unusual Presentation of Pseudohypoparathyroidism Type 1a Associated with a Novel GNAS Mutation and Vitamin D Deficiency
Journal of the Endocrine Society. 2019;3(Supplement_1):   Crossref logo
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New mutation (S298P) in a patient with glycogen storage disease type IA
Human Mutation. 1998;11(S1):S329-S329   Crossref logo
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Molecular genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations
Human Mutation. 2000;15(1):115-116   Crossref logo
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Identification of a novel TGFBR1 mutation in a Loeys-Dietz syndrome type II patient with vascular Ehlers-Danlos syndrome phenotype
Clinical Genetics. 2007;73(3):290-293   Crossref logo
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