Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. (Record no. 22015824)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01151 a2200361 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516104839.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201301s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2542-5641 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Da |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20130102 |
| 245 00 - TITLE STATEMENT | |
| Title | Exome sequencing identifies compound heterozygous PKHD1 mutations as a cause of autosomal recessive polycystic kidney disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Chinese medical journal |
| Date of publication, distribution, etc. | Jul 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2482-6 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polycystic Kidney, Autosomal Recessive |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, Cell Surface |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lu, Lin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yang, Hong-Bo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Mei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sun, Hao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zeng, Zheng-Pei |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Xin-Ping |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xia, Wei-Bo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xing, Xiao-Ping |
| 773 0# - HOST ITEM ENTRY | |
| Title | Chinese medical journal |
| Related parts | vol. 125 |
| -- | no. 14 |
| -- | p. 2482-6 |
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