Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. (Record no. 18450404)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01385 a2200445 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515145327.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1090-0535 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Firasat, Sabika |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20090306 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel CYP1B1 mutations in consanguineous Pakistani families with primary congenital glaucoma. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular vision |
| Date of publication, distribution, etc. | 2008 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2002-9 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Aryl Hydrocarbon Hydroxylases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Asian People |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Base Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 2 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Consanguinity |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytochrome P-450 CYP1B1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytochrome P-450 Enzyme System |
| General subdivision | chemistry |
| 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 | Family |
| 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 | Glaucoma |
| General subdivision | congenital |
| 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 | Lod Score |
| 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 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pakistan |
| 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 | Sequence Alignment |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, S Amer |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Shaheen N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Riazuddin, Sheikh |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular vision |
| Related parts | vol. 14 |
| -- | p. 2002-9 |
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