A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child. (Record no. 24129475)

MARC details
000 -LEADER
fixed length control field 01522 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516231215.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201604s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-7365
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s11011-014-9612-6
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 Mirabelli-Badenier, Marisol
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20160401
245 00 - TITLE STATEMENT
Title A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Metabolic brain disease
Date of publication, distribution, etc. Jun 2015
300 ## - PHYSICAL DESCRIPTION
Extent 681-6 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
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 Homozygote
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 Italy
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 Mucolipidoses
General subdivision diagnosis
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 Transient Receptor Potential Channels
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element White People
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Severino, Mariasavina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tappino, Barbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Tortora, Domenico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Camia, Francesca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zanaboni, Clelia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Brera, Fabia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Priolo, Enrico
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rossi, Andrea
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Biancheri, Roberta
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Di Rocco, Maja
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Filocamo, Mirella
773 0# - HOST ITEM ENTRY
Title Metabolic brain disease
Related parts vol. 30
-- no. 3
-- p. 681-6
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s11011-014-9612-6">https://doi.org/10.1007/s11011-014-9612-6</a>
Public note Available from publisher's website

No items available.