Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. (Record no. 18741610)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01519 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515163352.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200905s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1523-6838 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1053/j.ajkd.2008.12.026 |
| 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 | Simpson, Michael A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090514 |
| 245 00 - TITLE STATEMENT | |
| Title | Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | American journal of kidney diseases : the official journal of the National Kidney Foundation |
| Date of publication, distribution, etc. | May 2009 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 790-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Comparative Study; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA |
| 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 | Ethnicity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 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 | Homozygote |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Diseases, Cystic |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kinesins |
| 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 | Mutation |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prognosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival Rate |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | United States |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cross, Harold E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cross, Leroy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Helmuth, Mervin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crosby, Andrew H |
| 773 0# - HOST ITEM ENTRY | |
| Title | American journal of kidney diseases : the official journal of the National Kidney Foundation |
| Related parts | vol. 53 |
| -- | no. 5 |
| -- | p. 790-5 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1053/j.ajkd.2008.12.026">https://doi.org/10.1053/j.ajkd.2008.12.026</a> |
| Public note | Available from publisher's website |
No items available.