Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion
about
Pseudohypoparathyroidism: one gene, several syndromes.Mice maintain predominantly maternal Gαs expression throughout life in brown fat tissue (BAT), but not other tissues.Heterotrimeric G proteins in the control of parathyroid hormone actions.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.
P2860
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P2860
Analysis of Multiple Families With Single Individuals Affected by Pseudohypoparathyroidism Type Ib (PHP1B) Reveals Only One Novel Maternally Inherited GNAS Deletion
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
Analysis of Multiple Families ...... rnally Inherited GNAS Deletion
@en
type
label
Analysis of Multiple Families ...... rnally Inherited GNAS Deletion
@en
prefLabel
Analysis of Multiple Families ...... rnally Inherited GNAS Deletion
@en
P2093
P2860
P50
P356
P1476
Analysis of Multiple Families ...... rnally Inherited GNAS Deletion
@en
P2093
Amita Sharma
F Lucy Raymond
Harald Jüppner
Monica Reyes
Olta Tafaj
Rieko Takatani
Tomoyuki Watanabe
Vibha Singhal
P2860
P304
P356
10.1002/JBMR.2731
P577
2015-10-19T00:00:00Z