Missense mutations in the β strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia

Journal of Medical Genetics

Volumn 41, Issue 1, 2004, Pages 52-59

  Jackson, G C ^a,j   Barker, F S ^a   Jakkula, E ^b   Czarny Ratajczak, M ^c,d   Makitie O ^e   Cole, W G ^e   Wright, M J ^f   Smithson, S F ^g   Suri, M ^h   Rogala, P ^d   Mortier, G R ⁱ   Baldock, C ^a   Wallace, A ^j   Elles, R ^j   Ala Kokko, L ^b,c   Briggs, M D ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

^b UNIVERSITY OF OULU   (Finland)

^c TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d Korol Morcinkowski Univ Med Sci   (Poland)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f INSTITUTE OF HUMAN GENETICS   (United Kingdom)

^g ST MICHAEL'S HOSPITAL   (United Kingdom)

^h NOTTINGHAM CITY HOSPITAL   (United Kingdom)

ⁱ GHENT UNIVERSITY HOSPITAL   (Belgium)

^j ST MARY S HOSPITAL   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MATRILIN 3; SCLEROPROTEIN; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; ANAMNESIS; ARTICLE; BETA SHEET; BLOOD SAMPLING; BONE DYSPLASIA; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; DNA POLYMORPHISM; EPIPHYSIS DISEASE; EPIPHYSIS DYSPLASIA; FAMILY; FEMALE; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SEQUENCE ANALYSIS;

ADOLESCENT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GLYCOPROTEINS; HAPLOTYPES; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PEPTIDES; PROTEIN STRUCTURE, TERTIARY;

EID: 9144234060     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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