[Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina]. (Record no. 24848742)
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000 -LEADER | |
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fixed length control field | 01029 a2200337 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517030851.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201510s 0 0 spa d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 0025-7680 |
040 ## - CATALOGING SOURCE | |
Original cataloging agency | NLM |
Language of cataloging | eng |
Transcribing agency | NLM |
100 1# - MAIN ENTRY--PERSONAL NAME | |
Personal name | Laurito, Sergio |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20151009 |
245 00 - TITLE STATEMENT | |
Title | [Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina]. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Medicina |
Date of publication, distribution, etc. | 2015 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 91-4 p. |
Other physical details | digital |
500 ## - GENERAL NOTE | |
General note | Publication Type: Case Reports; Journal Article |
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 | Algorithms |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Argentina |
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 | Humans |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Indians, South American |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Multiplex Polymerase Chain Reaction |
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 | Neurofibromatosis 1 |
General subdivision | genetics |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | RNA Splicing |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Sequence Analysis, DNA |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | White People |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Di Pierri, José |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Roqué, María |
773 0# - HOST ITEM ENTRY | |
Title | Medicina |
Related parts | vol. 75 |
-- | no. 2 |
-- | p. 91-4 |
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