Ten novel FBN2 mutations in congenital contractural arachnodactyly: Delineation of the molecular pathogenesis and clinical phenotype

Human Mutation

Volumn 19, Issue 1, 2002, Pages 39-48

  Gupta, Prateek A ^a   Putnam, Elizabeth A ^a   Carmical, Sonya G ^a   Kaitila, Ilkka ^b   Steinmann, Beat ^c   Child, Anne ^d   Danesino, Cesare ^e   Metcalfe, Kay ^f   Berry, Susan A ^g   Chen, Emily ^h   Delorme, Catherine Vincent ⁱ   Thong, Meow Keong ^j   Adès, Lesley C ^k   Milewicz, Dianna M ^a  

^a UNIVERSITY OF TEXAS MEDICAL SCHOOL   (United States)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^d ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^e UNIVERSITY OF PAVIA   (Italy)

^f ST MARY S HOSPITAL   (United Kingdom)

^g UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^h CHILDREN S HOSPITAL OAKLAND   (United States)

ⁱ Genetique Medicale   (France)

^j ROYAL CHILDREN'S HOSPITAL   (Australia)

^k CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

more..

Author keywords

CCA; Clinical phenotype; Congenital contractural arachnodactyly; FBN1; FBN2; Fibrillin 1; Fibrillin 2; Genotype phenotype; Marfan syndrome; MFS

Indexed keywords

GENE PRODUCT; PROTEIN FBN2; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SEQUENCE; AORTA DISEASE; AORTA ROOT; ARACHNODACTYLY; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CLINICAL FEATURE; CONSENSUS SEQUENCE; EXON; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INFANT; MALE; NEWBORN; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SINGLE STRAND CONFORMATION POLYMORPHISM;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; CALCIUM-BINDING PROTEINS; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MARFAN SYNDROME; MICROFILAMENT PROTEINS; MIDDLE AGED; MUTATION; PHENOTYPE;

EID: 18244366671     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.10017     Document Type: Article

References (28)

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