Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses. (Record no. 15065862)

MARC details
000 -LEADER
fixed length control field 01446 a2200361 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514201511.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200502s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1098-3600
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1097/01.gim.0000139504.05850.4b
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 Rohlfs, Elizabeth M
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20050222
245 00 - TITLE STATEMENT
Title Analysis of 3208 cystic fibrosis prenatal diagnoses: impact of carrier screening guidelines on distribution of indications for CFTR mutation and IVS-8 poly(T) analyses.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Genetics in medicine : official journal of the American College of Medical Genetics
Date of publication, distribution, etc.
300 ## - PHYSICAL DESCRIPTION
Extent 400-4 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Journal Article
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Cystic Fibrosis
General subdivision diagnosis
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 DNA Mutational Analysis
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
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genetic Carrier Screening
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 Humans
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Poly T
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Pregnancy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Prenatal Diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Weinblatt, Vivian J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Treat, Karen J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sugarman, Elaine A
773 0# - HOST ITEM ENTRY
Title Genetics in medicine : official journal of the American College of Medical Genetics
Related parts vol. 6
-- no. 5
-- p. 400-4
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1097/01.gim.0000139504.05850.4b">https://doi.org/10.1097/01.gim.0000139504.05850.4b</a>
Public note Available from publisher's website

No items available.