Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. (Record no. 11383653)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01892 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514003753.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200108s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1061-4036 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ng576 |
| 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 | Anikster, Y |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20010816 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Nature genetics |
| Date of publication, distribution, etc. | Aug 2001 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 376-80 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, U.S. Gov't, P.H.S. |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alleles |
| 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 | Blotting, Northern |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carrier Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 3 |
| 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 | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Founder Effect |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Carrier Screening |
| 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 | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hermanski-Pudlak Syndrome |
| General subdivision | epidemiology |
| 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 | Intracellular Signaling Peptides and Proteins |
| 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 | Molecular Sequence Data |
| 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 | Organ Specificity |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Physical Chromosome Mapping |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Puerto Rico |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huizing, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | White, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shevchenko, Y O |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fitzpatrick, D L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Touchman, J W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Compton, J G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bale, S J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Swank, R T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gahl, W A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toro, J R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Nature genetics |
| Related parts | vol. 28 |
| -- | no. 4 |
| -- | p. 376-80 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ng576">https://doi.org/10.1038/ng576</a> |
| Public note | Available from publisher's website |
No items available.