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)
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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.