A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. (Record no. 30008256)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01388 a2200433 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518054142.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201909s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1536-5964 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/MD.0000000000016899 |
| 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 | Wu, Wenjuan |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190903 |
| 245 00 - TITLE STATEMENT | |
| Title | A novel mutation causes Hermansky-Pudlak syndrome type 4 with pulmonary fibrosis in 2 siblings from China. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Medicine |
| Date of publication, distribution, etc. | Aug 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e16899 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Observational Study |
| 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 | China |
| 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 | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Guanine Nucleotide Exchange Factors |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hermanski-Pudlak Syndrome |
| 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 | Idiopathic Pulmonary Fibrosis |
| General subdivision | diagnostic imaging |
| 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 | Proteins |
| General subdivision | genetics |
| 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 | Siblings |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Keqin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Yanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dong, ZhaoXing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Tao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lei, Wen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Weimin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Zhaoqing |
| 773 0# - HOST ITEM ENTRY | |
| Title | Medicine |
| Related parts | vol. 98 |
| -- | no. 33 |
| -- | p. e16899 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/MD.0000000000016899">https://doi.org/10.1097/MD.0000000000016899</a> |
| Public note | Available from publisher's website |
No items available.