A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
about
Heterotrimeric G proteins in the control of parathyroid hormone actions.First large genomic inversion in familial cerebral cavernous malformation identified by whole genome sequencing.A novel deletion involving GNAS exon 1 causes PHP1A and further refines the region required for normal methylation at exon A/B.
P2860
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B).
description
2017 nî lūn-bûn
@nan
2017年の論文
@ja
2017年学术文章
@wuu
2017年学术文章
@zh
2017年学术文章
@zh-cn
2017年学术文章
@zh-hans
2017年学术文章
@zh-my
2017年学术文章
@zh-sg
2017年學術文章
@yue
2017年學術文章
@zh-hant
name
A Large Inversion Involving GN ...... arathyroidism Type Ib (PHP1B).
@en
A Large Inversion Involving GN ...... eudohypoparathyroidism Type Ib
@nl
type
label
A Large Inversion Involving GN ...... arathyroidism Type Ib (PHP1B).
@en
A Large Inversion Involving GN ...... eudohypoparathyroidism Type Ib
@nl
prefLabel
A Large Inversion Involving GN ...... arathyroidism Type Ib (PHP1B).
@en
A Large Inversion Involving GN ...... eudohypoparathyroidism Type Ib
@nl
P2093
P2860
P50
P356
P1476
A Large Inversion Involving GN ...... arathyroidism Type Ib (PHP1B).
@en
P2093
Angelo Molinaro
Harald Jüppner
Jesper Eisfeldt
Marie-Laure Kottler
Marja Ala-Houhala
Monica Reyes
Olta Tafaj
Outi Mäkitie
Pasi I Nevalainen
Rieko Takatani
P2860
P304
P356
10.1002/JBMR.3083
P577
2017-02-24T00:00:00Z