Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. (Record no. 25487090)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01349 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517064623.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201701s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2190-3883 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s13353-015-0328-z |
| 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 | Ziemnicka, K |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170111 |
| 245 00 - TITLE STATEMENT | |
| Title | Two coexisting heterozygous frameshift mutations in PROP1 are responsible for a different phenotype of combined pituitary hormone deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of applied genetics |
| Date of publication, distribution, etc. | Aug 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 373-81 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 | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Frameshift Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homeodomain Proteins |
| General subdivision | genetics |
| 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 | Hypopituitarism |
| General subdivision | genetics |
| 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 | Phenotype |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Budny, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Drobnik, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baszko-Błaszyk, D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stajgis, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Katulska, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waśko, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wrotkowska, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Słomski, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ruchała, M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of applied genetics |
| Related parts | vol. 57 |
| -- | no. 3 |
| -- | p. 373-81 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s13353-015-0328-z">https://doi.org/10.1007/s13353-015-0328-z</a> |
| Public note | Available from publisher's website |
No items available.