Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. (Record no. 11655024)
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|---|---|
| fixed length control field | 02390 a2200805 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514020529.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200202s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0964-6906 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1093/hmg/10.25.2851 |
| 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 | Brockington, M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020207 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human molecular genetics |
| Date of publication, distribution, etc. | Dec 2001 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 2851-9 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 | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Age of Onset |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Blotting, Western |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Calpain |
| General subdivision | metabolism |
| 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 | Chromosomes, Human, Pair 19 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cytoskeletal Proteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Primers |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dystroglycans |
| 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 Linkage |
| 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 | Haplotypes |
| 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 | Immunoenzyme Techniques |
| 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 | Laminin |
| General subdivision | deficiency |
| 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 | Membrane Glycoproteins |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microsatellite Repeats |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies |
| General subdivision | congenital |
| 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 | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pentosyltransferases |
| 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 | Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yuva, Y |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prandini, P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brown, S C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torelli, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benson, M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Herrmann, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Anderson, L V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bashir, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burgunder, J M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fallet, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Romero, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fardeau, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Straub, V |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Storey, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pollitt, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Richard, I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sewry, C A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bushby, K |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Voit, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blake, D J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Muntoni, F |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human molecular genetics |
| Related parts | vol. 10 |
| -- | no. 25 |
| -- | p. 2851-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1093/hmg/10.25.2851">https://doi.org/10.1093/hmg/10.25.2851</a> |
| Public note | Available from publisher's website |
No items available.