Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. (Record no. 20189346)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02072 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516002949.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2010.147 |
| 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 | Arrigoni, Francesca I |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110504 |
| 245 00 - TITLE STATEMENT | |
| Title | Extended extraocular phenotype of PROM1 mutation in kindreds with known autosomal dominant macular dystrophy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Feb 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 131-7 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | AC133 Antigen |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Abortion, Spontaneous |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Antigens, CD |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cognition |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Empty Sella Syndrome |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Endothelial Cells |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 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 | Genes, Dominant |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hematuria |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hippocampus |
| 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 | Kidney Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Macular Degeneration |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Peptides |
| General subdivision | genetics |
| 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 | Radiography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matarin, Mar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thompson, Pamela J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Michaelides, Michel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | McClements, Michelle E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Redmond, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Clarke, Lindsey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ellins, Elizabeth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mohamed, Saifullah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pavord, Ian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klein, Nigel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hunt, David M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moore, Anthony T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Halcox, Julian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sisodiya, Sanjay M |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 19 |
| -- | no. 2 |
| -- | p. 131-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2010.147">https://doi.org/10.1038/ejhg.2010.147</a> |
| Public note | Available from publisher's website |
No items available.