Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome

Saved in:
Bibliographic Details
Published inOphthalmic genetics Vol. 43; no. 4; pp. 573 - 575
Main Authors Huang, Lijuan, Guo, Maosheng, Zhou, Yunyu, Liang, Tianwei, Li, Ningdong
Format Journal Article
LanguageEnglish
Published Taylor & Francis 04.07.2022
Online AccessGet full text

Cover

Loading…
Author Huang, Lijuan
Li, Ningdong
Zhou, Yunyu
Liang, Tianwei
Guo, Maosheng
Author_xml – sequence: 1
  givenname: Lijuan
  orcidid: 0000-0003-2727-9454
  surname: Huang
  fullname: Huang, Lijuan
  organization: The Second Affiliated Hospital of Fujian Medical University
– sequence: 2
  givenname: Maosheng
  surname: Guo
  fullname: Guo, Maosheng
  organization: The Second Affiliated Hospital of Fujian Medical University
– sequence: 3
  givenname: Yunyu
  surname: Zhou
  fullname: Zhou, Yunyu
  organization: Capital Medical University
– sequence: 4
  givenname: Tianwei
  surname: Liang
  fullname: Liang, Tianwei
  organization: Capital Medical University
– sequence: 5
  givenname: Ningdong
  orcidid: 0000-0003-3786-9490
  surname: Li
  fullname: Li, Ningdong
  organization: Capital Institute of Pediatrics
BookMark eNp9kElOwzAYhS0EEm3hCEhZsgl4iNN4R1UxVCpiwbC1_jg2NUrsYrtUvRgX4GIkatmy-cfvvcUbo2PnnUboguArgit8TVhFyqrfKKa0L4JOuThCIzItipxjURz3c8_kA3SKxjF-4J4khI_Q26LRLlljFSTrXeZNNls-PpNsDWnl37WzKvuCYMGlmFmXzVfW6aiHt9XDbWvTKpu1MYWf7y6LO9cE3-kzdGKgjfr80Cfo9e72Zf6QL5_uF_PZMldUkJSX0IDmjEBdTjGpAepK6YoUDBrFRG2UwQU3JVUFJbTEihWG04IpLgQGUlM2QZd733Xwnxsdk-xsVLptwWm_iZKWFcdMlHTao3yPquBjDNrIdbAdhJ0kWA45yr8c5ZCjPOTY6272OuuMDx1sfWgbmWDX-mACOGWjZP9b_AKl7HyJ
Cites_doi 10.1038/nrendo.2010.210
10.2147/TACG.S56612
10.1515/jpem-2017-0418
10.1089/gtmb.2016.0391
10.1007/s40291-020-00496-1
10.1038/jhg.2014.85
10.1093/hmg/ddt060
10.1002/humu.22796
10.1038/s41598-020-66453-4
ContentType Journal Article
Copyright 2022 Taylor & Francis Group, LLC 2022
Copyright_xml – notice: 2022 Taylor & Francis Group, LLC 2022
DBID AAYXX
CITATION
7X8
DOI 10.1080/13816810.2022.2092759
DatabaseName CrossRef
MEDLINE - Academic
DatabaseTitle CrossRef
MEDLINE - Academic
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1744-5094
EndPage 575
ExternalDocumentID 10_1080_13816810_2022_2092759
2092759
Genre Letter to the Editor
Correspondence
GroupedDBID ---
00X
03L
0BK
0R~
123
29N
36B
4.4
AALUX
AAMIU
AAPUL
AAQRR
ABBKH
ABDBF
ABEIZ
ABJNI
ABLIJ
ABLKL
ABUPF
ABXYU
ACENM
ACGEJ
ACGFS
ACIEZ
ACUHS
ADCVX
ADRBQ
ADXPE
AECIN
AENEX
AEOZL
AFKVX
AGDLA
AGFJD
AGRBW
AGYJP
AIJEM
AIRBT
AJWEG
AKBVH
ALMA_UNASSIGNED_HOLDINGS
ALQZU
ALYBC
AMDAE
BABNJ
BLEHA
BOHLJ
CCCUG
CS3
DKSSO
DU5
EAP
EBC
EBD
EBS
EBX
EMB
EMK
EMOBN
EPL
ESX
F5P
H13
HZ~
KRBQP
KSSTO
KWAYT
KYCEM
LJTGL
M4Z
O9-
P2P
RNANH
RVRKI
SV3
TBQAZ
TDBHL
TERGH
TFDNU
TFL
TFW
TUROJ
TUS
UEQFS
V1S
~1N
AAGDL
AAYXX
ABWVI
ADYSH
AFRVT
AMPGV
CITATION
7X8
ID FETCH-LOGICAL-c291t-6adae531ab6701baab8ce8143adc39bfcf045f62c421260c34f5243c5990a1b23
ISSN 1381-6810
1744-5094
IngestDate Fri Jul 11 12:15:14 EDT 2025
Tue Jul 01 04:21:41 EDT 2025
Wed Dec 25 09:06:08 EST 2024
IsPeerReviewed true
IsScholarly true
Issue 4
Language English
LinkModel OpenURL
MergedId FETCHMERGED-LOGICAL-c291t-6adae531ab6701baab8ce8143adc39bfcf045f62c421260c34f5243c5990a1b23
Notes content type line 23
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
ORCID 0000-0003-3786-9490
0000-0003-2727-9454
PQID 2685039627
PQPubID 23479
PageCount 3
ParticipantIDs informaworld_taylorfrancis_310_1080_13816810_2022_2092759
crossref_primary_10_1080_13816810_2022_2092759
proquest_miscellaneous_2685039627
ProviderPackageCode CITATION
AAYXX
PublicationCentury 2000
PublicationDate 2022-07-04
PublicationDateYYYYMMDD 2022-07-04
PublicationDate_xml – month: 07
  year: 2022
  text: 2022-07-04
  day: 04
PublicationDecade 2020
PublicationTitle Ophthalmic genetics
PublicationYear 2022
Publisher Taylor & Francis
Publisher_xml – name: Taylor & Francis
References cit0001
cit0010
cit0008
cit0009
cit0006
cit0007
cit0004
cit0005
cit0002
cit0003
References_xml – ident: cit0003
  doi: 10.1038/nrendo.2010.210
– ident: cit0006
  doi: 10.2147/TACG.S56612
– ident: cit0007
  doi: 10.1515/jpem-2017-0418
– ident: cit0002
  doi: 10.1089/gtmb.2016.0391
– ident: cit0005
  doi: 10.1007/s40291-020-00496-1
– ident: cit0004
  doi: 10.1038/jhg.2014.85
– ident: cit0008
– ident: cit0001
  doi: 10.1093/hmg/ddt060
– ident: cit0009
  doi: 10.1002/humu.22796
– ident: cit0010
  doi: 10.1038/s41598-020-66453-4
SSID ssj0022115
Score 2.264313
SourceID proquest
crossref
informaworld
SourceType Aggregation Database
Index Database
Publisher
StartPage 573
Title Identification of ALMS1 pathogenic variants in Chinese patients with Alström syndrome
URI https://www.tandfonline.com/doi/abs/10.1080/13816810.2022.2092759
https://www.proquest.com/docview/2685039627
Volume 43
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwnV3bjtMwELXKroR4QVzFcpOReEMpuThp89gCywq18EAX7Vtku7YStJusaAKCX-B_-AF-jBlf2pStgOUliizZcTOnc3FmzhDyNFdMgiFdBhr85YAtVRzkQkSAZSWRQB1sPgaK87fZ0TF7c5KeDAbfe1lLXSuG8tvOupL_kSqMgVyxSvYSkl0vCgNwD_KFK0gYrv8kY1tlq92xm3EqZ_P3EZKllg3MquSzzxALm1QXrO4rTb9Jz6XqCtsmp6vWfC-fZmc7CQzenZdtyU8xiR7WxKLH1QYM7rh5Vn3sNjh73TW2DqhZlcqZRnM43XRG5Xf1184Pziq3xAJuvqiqfwwR25RV1tOcYPoDJDezhsWOjRgLkKGvr24tK5ODFevpztT2NHFmOLUNVS5oeJsSiU_Dhw1xK3DJ45EjFt9i1P7N0q3zDyNHjOqXKXCZwi1zhezHEHOA0tyfTF9OD9fxO8TKqYnf3S_1BWHj8PnO_Wy5OltEuBcMv_FmFjfIdReG0InF1E0yUPUtcnXuEi1ukw_b0KKNpgZadAMt6qFFq5o6aFEPLYrQogZaP3-cUQ-rO-T48NXixVHgWnAEMs6jNsj4kitQ01xkozASnIuxVGPwsflSJrnQUkNIoLNYYmJBFsqE6TRmiUzByeGRiJO7ZK9uanWPUK4y5OaDeDfRLBSaJwpsAXj_4DFHMPuADP3bKs4t00rxRzkdkLz_TovWHHFp24-mSP4y94kXQAH6FD-S8Vo13aqA_aRhgi2p7l92Qw_Itc0_4yHZaz916hG4rK147KD0CwL3jO8
linkProvider EBSCOhost
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Identification+of+ALMS1+pathogenic+variants+in+Chinese+patients+with+Alstr%C3%B6m+syndrome&rft.jtitle=Ophthalmic+genetics&rft.au=Huang%2C+Lijuan&rft.au=Guo%2C+Maosheng&rft.au=Zhou%2C+Yunyu&rft.au=Liang%2C+Tianwei&rft.date=2022-07-04&rft.issn=1381-6810&rft.eissn=1744-5094&rft.volume=43&rft.issue=4&rft.spage=573&rft.epage=575&rft_id=info:doi/10.1080%2F13816810.2022.2092759&rft.externalDBID=n%2Fa&rft.externalDocID=10_1080_13816810_2022_2092759
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1381-6810&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1381-6810&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1381-6810&client=summon