Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency. (Record no. 21542061)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01439 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516080043.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201206s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1873-2933 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.clinbiochem.2012.01.027 |
| 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 | Zhan, Shing H |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120629 |
| 245 00 - TITLE STATEMENT | |
| Title | Sanger sequencing solved a cryptic case of severe alpha₁-antitrypsin deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical biochemistry |
| Date of publication, distribution, etc. | Apr 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 499-501 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 | Genetic Association Studies |
| 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 | 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 | Middle Aged |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pulmonary Disease, Chronic Obstructive |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pulmonary Emphysema |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Radiography |
| 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 | alpha 1-Antitrypsin |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha 1-Antitrypsin Deficiency |
| General subdivision | complications |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abboud, Raja T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jung, Benjamin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kuchinka, Brian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ralston, Diana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Casey, Brett |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mattman, Andre |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical biochemistry |
| Related parts | vol. 45 |
| -- | no. 6 |
| -- | p. 499-501 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.clinbiochem.2012.01.027">https://doi.org/10.1016/j.clinbiochem.2012.01.027</a> |
| Public note | Available from publisher's website |
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