Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. (Record no. 8748856)
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fixed length control field | 01520 a2200457 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250513094743.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 199609s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 0002-9297 |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | NLM |
Language of cataloging | eng |
Transcribing agency | NLM |
100 1# - MAIN ENTRY--PERSONAL NAME | |
Personal name | Parry, D M |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 19960925 |
245 00 - TITLE STATEMENT | |
Title | Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | American journal of human genetics |
Date of publication, distribution, etc. | Sep 1996 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 529-39 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. |
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 | Age of Onset |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Cataract |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genes, Neurofibromatosis 2 |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Genotype |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Germ-Line Mutation |
General subdivision | genetics |
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 | Male |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Meningioma |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Mutation |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Neurofibromatosis 2 |
General subdivision | diagnosis |
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 | Polymorphism, Single-Stranded Conformational |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Retinal Diseases |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Skin Neoplasms |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Spinal Neoplasms |
General subdivision | genetics |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | MacCollin, M M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Kaiser-Kupfer, M I |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pulaski, K |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Nicholson, H S |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Bolesta, M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Eldridge, R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gusella, J F |
773 0# - HOST ITEM ENTRY | |
Title | American journal of human genetics |
Related parts | vol. 59 |
-- | no. 3 |
-- | p. 529-39 |
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