Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
about
Identification and characterisation of eight novel SERPINA1 Null mutationsIdentification of a novel SERPINA-1 mutation causing alpha-1 antitrypsin deficiency in a patient with severe bronchiectasis and pulmonary embolismAlternative transcripts of the SERPINA1 gene in alpha-1 antitrypsin deficiencyClinical heterogeneity and potential high pathogenicity of the Mmalton Alpha 1 antitrypsin allele at the homozygous, compound heterozygous and heterozygous states.Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Alpha-1-antitrypsin deficiency: increasing awareness and improving diagnosis.Identification of Eight Spliceogenic Variants in BRCA2 Exon 16 by Minigene Assays.
P2860
Q34630059-0FF3FDD0-6400-4707-A446-D10C866DC1B2Q35596461-F9E72E6E-D709-4CCC-A209-F6E3E4F272ADQ35814577-E81E6147-B132-4E02-95D0-EBB86150F177Q36131624-80BC24C5-98EB-4238-B3B4-D6DDCBDE4857Q36322003-C1ADECCE-6751-4015-85CE-149D35CC1211Q38581002-FEAF8F6D-274E-4681-BA26-C1489A297F15Q54917737-BBC16E01-2230-444E-8275-E04D6FF6E35C
P2860
Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@ast
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@en
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@nl
type
label
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@ast
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@en
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@nl
prefLabel
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@ast
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@en
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@nl
P2093
P2860
P50
P1433
P1476
Severe alpha-1 antitrypsin def ...... new splicing mutation QOMadrid
@en
P2093
Beatriz Lara
Cristina Hernández-Moro
Ilaria Ferrarotti
Irene Vazquez
Laura Perez
Maria Teresa Martínez
P2860
P2888
P356
10.1186/S12931-014-0125-Y
P50
P577
2014-10-07T00:00:00Z
P5875
P6179
1016773249