A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency. (Record no. 30130377)

MARC details
000 -LEADER
fixed length control field 02376 a2200709 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518061744.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201911s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1479-683X
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1530/EJE-19-0563
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 Keselman, Ana Claudia
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20191129
245 00 - TITLE STATEMENT
Title A homozygous mutation in the highly conserved Tyr60 of the mature IGF1 peptide broadens the spectrum of IGF1 deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. European journal of endocrinology
Date of publication, distribution, etc. Nov 2019
300 ## - PHYSICAL DESCRIPTION
Extent K43-K53 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Abnormalities, Multiple
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cell Proliferation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computational Biology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Computer Simulation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Fetal Growth Retardation
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Growth Disorders
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element HEK293 Cells
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Hearing Loss, Sensorineural
General subdivision genetics
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 Infant
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Insulin-Like Growth Factor I
General subdivision deficiency
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 Mutation, Missense
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pedigree
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Single Nucleotide
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor, IGF Type 1
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Somatomedin
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tyrosine
General subdivision genetics
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Martin, Ayelen
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Scaglia, Paula Alejandra
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sanguineti, Nora María
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Armando, Romina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gutiérrez, Mariana
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Braslavsky, Débora
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ballerini, María Gabriela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ropelato, María Gabriela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ramirez, Laura
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Landi, Estefanía
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Domené, Sabina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Castro, Julia F
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Cassinelli, Hamilton
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Casali, Bárbara
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Del Rey, Graciela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Barros, Ángel Campos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Nevado Blanco, Julián
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Domené, Horacio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jasper, Héctor
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Arberas, Claudia
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rey, Rodolfo A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lapunzina-Badía, Pablo
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bergadá, Ignacio
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pennisi, Patricia A
773 0# - HOST ITEM ENTRY
Title European journal of endocrinology
Related parts vol. 181
-- no. 5
-- p. K43-K53
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1530/EJE-19-0563">https://doi.org/10.1530/EJE-19-0563</a>
Public note Available from publisher's website

No items available.