[Neurofibromatosis type 1. Splicing mutation detected by MLPA and DNA sequencing in Argentina]. (Record no. 24848742)

MARC details
000 -LEADER
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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