A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking. (Record no. 23731055)

MARC details
000 -LEADER
fixed length control field 01971 a2200565 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516205632.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201405s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1471-2350
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/1471-2350-15-42
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 Al-Kindi, Adila
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20140527
245 00 - TITLE STATEMENT
Title A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. BMC medical genetics
Date of publication, distribution, etc. Apr 2014
300 ## - PHYSICAL DESCRIPTION
Extent 42 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 Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Blotting, Western
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Primers
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Discoidin Domain Receptors
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Dwarfism
General subdivision diagnostic imaging
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 Immunohistochemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Microscopy, Confocal
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Molecular Sequence Data
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 Optic Atrophy
General subdivision pathology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Osteochondrodysplasias
General subdivision diagnostic imaging
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 Phosphorylation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Protein Transport
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Radiography
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptor Protein-Tyrosine Kinases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Mitogen
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Analysis, DNA
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Deletion
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Siblings
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Kizhakkedath, Praseetha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Xu, Huifang
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name John, Anne
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sayegh, Abeer Al
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ganesh, Anuradha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Awadi, Maha
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Anbouri, Lamya
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Al-Gazali, Lihadh
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Leitinger, Birgit
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Ali, Bassam R
773 0# - HOST ITEM ENTRY
Title BMC medical genetics
Related parts vol. 15
-- p. 42
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/1471-2350-15-42">https://doi.org/10.1186/1471-2350-15-42</a>
Public note Available from publisher's website

No items available.