A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. (Record no. 20519322)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02233 a2200709 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516021246.0 |
| 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 | 1549-4713 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ophtha.2010.10.009 |
| 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 | Mohney, Brian G |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110811 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation of LAMB2 in a multigenerational mennonite family reveals a new phenotypic variant of Pierson syndrome. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Ophthalmology |
| Date of publication, distribution, etc. | Jun 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1137-44 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 3 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Abnormalities |
| General subdivision | genetics |
| 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 | Follow-Up Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Laminin |
| General subdivision | genetics |
| 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 | Middle Aged |
| 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 | Myasthenic Syndromes, Congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Nephrotic Syndrome |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pupil Disorders |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pulido, Jose S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindor, Noralane M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hogan, Marie C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Consugar, Mark B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Peters, Justin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pankratz, V Shane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nasr, Samih H |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smith, Stephen J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gloor, James |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kubly, Vickie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spencer, Dorothy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nielson, Rebecca |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Puffenberger, Erik G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strauss, Kevin A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morton, D Holmes |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eldahdah, Lama |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harris, Peter C |
| 773 0# - HOST ITEM ENTRY | |
| Title | Ophthalmology |
| Related parts | vol. 118 |
| -- | no. 6 |
| -- | p. 1137-44 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ophtha.2010.10.009">https://doi.org/10.1016/j.ophtha.2010.10.009</a> |
| Public note | Available from publisher's website |
No items available.