A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. (Record no. 10515909)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01548 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513194938.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1018-8665 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1159/000018218 |
| 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 | Matsunaga, J |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20000111 |
| 245 00 - TITLE STATEMENT | |
| Title | A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Dermatology (Basel, Switzerland) |
| Date of publication, distribution, etc. | 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 124-9 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 | Albinism, Oculocutaneous |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Alternative Splicing |
| 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 | Genetic Testing |
| 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 | Heterozygote |
| 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 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Japan |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Melanins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Monophenol Monooxygenase |
| General subdivision | genetics |
| 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 | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pigmentation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Deletion |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dakeishi-Hara, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tanita, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nindl, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nagata, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nakamura, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miyamura, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kikuchi, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Furue, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tomita, Y |
| 773 0# - HOST ITEM ENTRY | |
| Title | Dermatology (Basel, Switzerland) |
| Related parts | vol. 199 |
| -- | no. 2 |
| -- | p. 124-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1159/000018218">https://doi.org/10.1159/000018218</a> |
| Public note | Available from publisher's website |
No items available.