Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
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Fine mapping of the hereditary haemorrhagic telangiectasia (HHT)3 locus on chromosome 5 excludes VE-Cadherin-2, Sprouty4 and other interval genes.Optimal management of hereditary hemorrhagic telangiectasia.An intron mutation in the ACVRL1 may be associated with a transcriptional regulation defect in a Chinese family with hereditary hemorrhagic telangiectasia.Directional next-generation RNA sequencing and examination of premature termination codon mutations in endoglin/hereditary haemorrhagic telangiectasiaHereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era.Specific cancer rates may differ in patients with hereditary haemorrhagic telangiectasia compared to controls.Endothelial chromosome 13 deletion in congenital heart disease-associated pulmonary arterial hypertension dysregulates SMAD9 signaling.Molecular diagnosis in hereditary hemorrhagic telangiectasia: findings in a series tested simultaneously by sequencing and deletion/duplication analysis.
P2860
Q34076803-E8D51CC4-CEAD-47A8-9A28-53345CF92C75Q34388065-EC66228F-90E1-441B-8E1E-0ADCC4855F91Q34608886-CED443FD-8B35-48AF-8CC8-744270F6F157Q34784416-FAD66A79-3597-4C0E-8F64-C59E5FF2C267Q35012638-F90DAF05-FA7D-4E6C-83A4-75C9D5EB340BQ37479646-2EAF9E5E-7DCC-44B0-B5C2-60E0175C6921Q42592424-7B54DF83-6918-4CDF-B4BA-87303BABFDA9Q54626589-F399ED39-4EAF-44B0-ACFC-C2668817A5BC
P2860
Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation.
description
2009 nî lūn-bûn
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2009年学术文章
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name
Multiple sequence variants in ...... lar diagnostic interpretation.
@en
Multiple sequence variants in ...... lar diagnostic interpretation.
@nl
type
label
Multiple sequence variants in ...... lar diagnostic interpretation.
@en
Multiple sequence variants in ...... lar diagnostic interpretation.
@nl
prefLabel
Multiple sequence variants in ...... lar diagnostic interpretation.
@en
Multiple sequence variants in ...... lar diagnostic interpretation.
@nl
P2093
P2860
P1476
Multiple sequence variants in ...... lar diagnostic interpretation.
@en
P2093
Allene Burdette
Changkuoth Jock Bukjiok
Friederike Gedge
James Carlisle
Jamie McDonald
Michelle Fox
Pinar Bayrak-Toydemir
P2860
P304
P356
10.2353/JMOLDX.2009.080148
P577
2009-09-18T00:00:00Z