Mutations in pseudohypoparathyroidism 1a and pseudopseudohypoparathyroidism in ethnic Chinese

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...

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Veröffentlicht in:	PloS one 2014-03, Vol.9 (3), p.e90640-e90640
Hauptverfasser:	Wu, Yi-Lei, Hwang, Daw-Yang, Hsiao, Hui-Pin, Ting, Wei-Hsin, Huang, Chi-Yu, Tsai, Wen-Yu, Chen, Hung-Chun, Chao, Mei-Chyn, Lo, Fu-Sung, Tsai, Jeng-Daw, Yang, Stone, Shih, Shin-Lin, Lin, Shuan-Pei, Lin, Chiung-Ling, Lee, Yann-Jinn
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Amino Acid Sequence Animals Asian Continental Ancestry Group - genetics Base Sequence Biology and Life Sciences Blood cells Calcitriol Calcium carbonate Care and treatment Child Child, Preschool China Chlorocebus aethiops Chromogranins Codons Community colleges COS Cells Ethnic Groups - genetics Exon skipping Extracorporeal shockwave lithotripsy Female Genes Genetic aspects Girls GNAS protein GTP-Binding Protein alpha Subunits, Gs - chemistry GTP-Binding Protein alpha Subunits, Gs - genetics Hormones Humans Hypothyroidism Kidney - diagnostic imaging Kidney stones Kidneys Leukocytes, Mononuclear - metabolism Lithiasis Lithotripsy Male Medical research Medicine and Health Sciences Mental disorders Molecular Sequence Data Monitoring Mutation Mutation - genetics Nephrolithiasis Patients Peripheral blood Physicians Polymerase chain reaction Pseudohypoparathyroidism Pseudohypoparathyroidism - genetics Pseudopseudohypoparathyroidism - genetics Radiography Reverse Transcriptase Polymerase Chain Reaction Shock waves Thyroid hormones Translation (Genetics) Translation termination Ultrasonography Urinary Bladder - diagnostic imaging
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