Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study. (Record no. 18684667)

MARC details
000 -LEADER
fixed length control field 02338 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515161440.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200907s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-1004
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/humu.20930
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 Tessa, Alessandra
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090730
245 00 - TITLE STATEMENT
Title Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Human mutation
Date of publication, distribution, etc. May 2009
300 ## - PHYSICAL DESCRIPTION
Extent 741-8 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Amino Acid Transport Systems, Basic
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biological Transport
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Citrulline
General subdivision analogs & derivatives
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Escherichia coli
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Female
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hyperammonemia
General subdivision epidemiology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Infant, Newborn
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Middle Aged
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Membrane Transport Proteins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutant Proteins
General subdivision isolation & purification
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Ornithine
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Structure, Secondary
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Fiermonte, Giuseppe
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dionisi-Vici, Carlo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Paradies, Eleonora
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Baumgartner, Matthias R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chien, Yin-Hsiu
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Loguercio, Carmela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Baulny, Helene Ogier
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nassogne, Marie-Cecile
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Schiff, Manuel
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Deodato, Federica
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Parenti, Giancarlo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rutledge, S Lane
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vilaseca, M Antonia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Melone, Mariarosa A B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scarano, Gioacchino
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aldamiz-Echevarría, Luiz
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Besley, Guy
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walter, John
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martinez-Hernandez, Eugenia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hernandez, Jose M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pierri, Ciro L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Palmieri, Ferdinando
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Santorelli, Filippo M
773 0# - HOST ITEM ENTRY
Title Human mutation
Related parts vol. 30
-- no. 5
-- p. 741-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/humu.20930">https://doi.org/10.1002/humu.20930</a>
Public note Available from publisher's website

No items available.