Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
about
Insight into response to mTOR inhibition when PKD1 and TSC2 are mutatedDyspnea in a 43-year-old woman with polycystic kidney diseaseCharacterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome.Beyond polycystic kidney disease.Imaging features of tuberous sclerosis complex with autosomal-dominant polycystic kidney disease: a contiguous gene syndrome.Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
P2860
Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease
description
2003 nî lūn-bûn
@nan
2003 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Large deletion causing the TSC ...... t infantile polycystic disease
@ast
Large deletion causing the TSC ...... t infantile polycystic disease
@en
type
label
Large deletion causing the TSC ...... t infantile polycystic disease
@ast
Large deletion causing the TSC ...... t infantile polycystic disease
@en
prefLabel
Large deletion causing the TSC ...... t infantile polycystic disease
@ast
Large deletion causing the TSC ...... t infantile polycystic disease
@en
P2093
P356
P1476
Large deletion causing the TSC ...... t infantile polycystic disease
@en
P2093
B H J Eussen
Y M Smulders
P356
10.1136/JMG.40.2.E17
P407
P50
P577
2003-02-01T00:00:00Z