Germ-line mutations in the neurofibromatosis 2 gene: correlations with disease severity and retinal abnormalities. (Record no. 8748856)

MARC details
000 -LEADER
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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