A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. (Record no. 20402153)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01856 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516013604.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201101s 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.2010.10.026 |
| 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 | Mochida, Ganeshwaran H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110118 |
| 245 00 - TITLE STATEMENT | |
| Title | A homozygous mutation in the tight-junction protein JAM3 causes hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of human genetics |
| Date of publication, distribution, etc. | Dec 2010 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 882-9 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 | Calcinosis |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cataract |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cell Adhesion Molecules |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebral Hemorrhage |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ependyma |
| General subdivision | pathology |
| 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 | 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 | Male |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tight Junctions |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ganesh, Vijay S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Felie, Jillian M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gleason, Danielle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hill, R Sean |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clapham, Katie Rose |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rakiec, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tan, Wen-Hann |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Akawi, Nadia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Saffar, Muna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Partlow, Jennifer N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tinschert, Sigrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barkovich, A James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ali, Bassam |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Al-Gazali, Lihadh |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walsh, Christopher A |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of human genetics |
| Related parts | vol. 87 |
| -- | no. 6 |
| -- | p. 882-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ajhg.2010.10.026">https://doi.org/10.1016/j.ajhg.2010.10.026</a> |
| Public note | Available from publisher's website |
No items available.