The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family

Human Mutation

Volumn 31, Issue 12, 2010, Pages

  Hilhorst Hofstee, Yvonne ^a   Rijlaarsdam, Marry EB ^a   Scholte, Arthur JHA ^a   Swart Van Den Berg, Marietta ^a   Versteegh, Michel IM ^a   Van Der Schoot Van Velzen, Iris ^a   Schäbitz, Hans Joachim ^b   Bijlsma, Emilia K ^a   Baars, Marieke J ^c   Kerstjens Frederikse, Wilhelmina S ^d   Giltay, Jacques C ^e   Hamel, Ben C ^f   Breuning, Martijn H ^a   Pals, Gerard ^f  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b Academic Medical Center ^*

^c ACADEMIC MEDICAL CENTER   (Netherlands)

^d UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^e UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^f VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Autosomal recessive inheritance; FBN1 gene; Fibrillin 1; Marfan syndrome; Pathogenesis

Indexed keywords

ASPARTIC ACID; CALCIUM BINDING EPIDERMAL GROWTH FACTOR; FIBRILLIN 1; UNCLASSIFIED DRUG;

ADULT; AMINO ACID SUBSTITUTION; AORTA ROOT; AORTA VALVE REGURGITATION; ARTICLE; CALCIUM BINDING; CEREBROSPINAL FLUID; CHILD; CHROMOSOME 15; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE SEVERITY; DNA EXTRACTION; FEMALE; GENE EXPRESSION; GENE MUTATION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; INGUINAL HERNIA; INTRACRANIAL HYPERTENSION; LENS SUBLUXATION; MALE; MARFAN SYNDROME; MISSENSE MUTATION; MITRAL VALVE REGURGITATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; RECESSIVE GENE; RNA ISOLATION; SCHOOL CHILD;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ASPARTIC ACID; CHILD; EPIDERMAL GROWTH FACTOR; FAMILY; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; MICROFILAMENT PROTEINS; MIDDLE AGED; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

EID: 78649557261     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21372     Document Type: Article

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