Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. (Record no. 10366885)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01344 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250513185717.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 199911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1059-7794 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K |
| 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 | de Franchis, R |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19991103 |
| 245 00 - TITLE STATEMENT | |
| Title | Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | 1999 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 453-7 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 | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cystathionine beta-Synthase |
| General subdivision | genetics |
| 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 | Fibroblasts |
| 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 | Homocystinuria |
| General subdivision | genetics |
| 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 | Mutagenesis |
| 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 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kraus, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kozich, V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sebastio, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kraus, J P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 13 |
| -- | no. 6 |
| -- | p. 453-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K">https://doi.org/10.1002/(SICI)1098-1004(1999)13:6<453::AID-HUMU4>3.0.CO;2-K</a> |
| Public note | Available from publisher's website |
No items available.