Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. (Record no. 19386848)
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000 -LEADER | |
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fixed length control field | 01724 a2200517 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250515201051.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201001s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1537-6605 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1016/j.ajhg.2009.11.010 |
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 | Dündar, Munis |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20100114 |
245 00 - TITLE STATEMENT | |
Title | Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | American journal of human genetics |
Date of publication, distribution, etc. | Dec 2009 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 873-82 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Amino Acid Sequence |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Clubfoot |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Craniofacial Abnormalities |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Disaccharides |
General subdivision | metabolism |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Epitopes |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Hand Deformities |
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 | Molecular Sequence Data |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation, Missense |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sequence Homology, Amino Acid |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sulfotransferases |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Syndrome |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Thumb |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Müller, Thomas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zhang, Qi |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pan, Jing |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Steinmann, Beat |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vodopiutz, Julia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gruber, Robert |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sonoda, Tohru |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Krabichler, Birgit |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Utermann, Gerd |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Baenziger, Jacques U |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zhang, Lijuan |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Janecke, Andreas R |
773 0# - HOST ITEM ENTRY | |
Title | American journal of human genetics |
Related parts | vol. 85 |
-- | no. 6 |
-- | p. 873-82 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2009.11.010">https://doi.org/10.1016/j.ajhg.2009.11.010</a> |
Public note | Available from publisher's website |
No items available.