Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State. (Record no. 28852644)

MARC details
000 -LEADER
fixed length control field 01739 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250518000402.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201904s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-4978
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s11033-018-4361-y
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 Mota, Laís Ribeiro
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20190424
245 00 - TITLE STATEMENT
Title Description of rare mutations and a novel variant in Brazilian patients with Cystic Fibrosis: a case series from a referral center in the Bahia State.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular biology reports
Date of publication, distribution, etc. Dec 2018
300 ## - PHYSICAL DESCRIPTION
Extent 2045-2051 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 Adult
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Alleles
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brazil
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 Cystic Fibrosis
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cystic Fibrosis Transmembrane Conductance Regulator
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 Gene Frequency
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Heterogeneity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Predisposition to Disease
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Testing
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 High-Throughput Nucleotide Sequencing
General subdivision methods
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 Mutation
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Melo Filho, Valmir Machado
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Castro, Lorena Lemos
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Garcia, Daniel Fantozzi
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Terse-Ramos, Regina
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Toralles, Maria Betânia Pereira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Lima, Renata Lúcia Leite Ferreira
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Souza, Edna Lúcia
773 0# - HOST ITEM ENTRY
Title Molecular biology reports
Related parts vol. 45
-- no. 6
-- p. 2045-2051
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s11033-018-4361-y">https://doi.org/10.1007/s11033-018-4361-y</a>
Public note Available from publisher's website

No items available.