Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome. (Record no. 28257664)

MARC details
000 -LEADER
fixed length control field 01755 a2200541 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250517210942.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field ####s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2018.03.015
Source of number or code doi
040 ## - CATALOGING SOURCE
Original cataloging agency NLM
Language of cataloging eng
Transcribing agency NLM
100 1# - MAIN ENTRY--PERSONAL NAME
Personal name Lake, Nicole J
245 00 - TITLE STATEMENT
Title Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. 04 2018
300 ## - PHYSICAL DESCRIPTION
Extent 713 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Published Erratum
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Webb, Bryn D
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Stroud, David A
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Personal name Richman, Tara R
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Personal name Ruzzenente, Benedetta
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Personal name Compton, Alison G
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Personal name Mountford, Hayley S
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Personal name Pulman, Juliette
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Personal name Zangarelli, Coralie
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Personal name Rio, Marlene
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Personal name Boddaert, Nathalie
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Personal name Assouline, Zahra
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Personal name Sherpa, Mingma D
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Personal name Schadt, Eric E
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Personal name Houten, Sander M
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Personal name Byrnes, James
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Personal name McCormick, Elizabeth M
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Personal name Zolkipli-Cunningham, Zarazuela
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Personal name Haude, Katrina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zhang, Zhancheng
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Personal name Retterer, Kyle
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bai, Renkui
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Personal name Calvo, Sarah E
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Personal name Mootha, Vamsi K
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Personal name Christodoulou, John
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Personal name Rötig, Agnes
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Personal name Filipovska, Aleksandra
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Personal name Cristian, Ingrid
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Personal name Falk, Marni J
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Personal name Metodiev, Metodi D
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Personal name Thorburn, David R
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 102
-- no. 4
-- p. 713
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2018.03.015">https://doi.org/10.1016/j.ajhg.2018.03.015</a>
Public note Available from publisher's website

No items available.