Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)
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Epidemiology and Diagnosis of Hypoparathyroidism.Pseudohypoparathyroidism: one gene, several syndromes.Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS DeletionPseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues.Case 17-2017. A 14-Year-Old Boy with Acute Fear of Choking while Swallowing.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).Early-Onset Obesity: Unrecognized First Evidence for GNAS Mutations and Methylation Changes.(Epi)genotype-Phenotype Analysis in 69 Japanese Patients With Pseudohypoparathyroidism Type I.
P2860
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P2860
Similar frequency of paternal uniparental disomy involving chromosome 20q (patUPD20q) in Japanese and Caucasian patients affected by sporadic pseudohypoparathyroidism type Ib (sporPHP1B)
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@ast
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@en
type
label
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@ast
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@en
prefLabel
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@ast
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@en
P2093
P2860
P50
P1433
P1476
Similar frequency of paternal ...... thyroidism type Ib (sporPHP1B)
@en
P2093
Fumio Nomura
Harald Jüppner
Itsuro Kazukawa
Kaori Kinoshita
Kenichi Sato
Masanori Minagawa
Misako Nagatsuma
Monica Reyes
Naoki Shimojo
Rieko Takatani
P2860
P356
10.1016/J.BONE.2015.05.011
P577
2015-05-19T00:00:00Z