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)
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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.