Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. (Record no. 20812904)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02133 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516034846.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201108s 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.2011.04.002 |
| 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 | Vissers, Lisenka E L M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110815 |
| 245 00 - TITLE STATEMENT | |
| Title | Chondrodysplasia and abnormal joint development associated with mutations in IMPAD1, encoding the Golgi-resident nucleotide phosphatase, gPAPP. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | May 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 608-15 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Bone Diseases, Developmental |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Golgi Apparatus |
| General subdivision | enzymology |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Joint Diseases |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Limb Deformities, Congenital |
| General subdivision | pathology |
| 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 | 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 | Nucleotides |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphoric Monoester Hydrolases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Structure, Quaternary |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteoglycans |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sulfotransferases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lausch, Ekkehart |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Unger, Sheila |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Campos-Xavier, Ana Belinda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gilissen, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Del Rosario, Marisol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Venselaar, Hanka |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Knoll, Ute |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nampoothiri, Sheela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nair, Mohandas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spranger, Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brunner, Han G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonafé, Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veltman, Joris A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zabel, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Superti-Furga, Andrea |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 88 |
| -- | no. 5 |
| -- | p. 608-15 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2011.04.002">https://doi.org/10.1016/j.ajhg.2011.04.002</a> |
| Public note | Available from publisher's website |
No items available.