A novel mutation in COL4A1 gene: A possible cause of early postnatal cerebrovascular events

COL4A1 is located in humans on chromosome13q34 and it encodes the alpha 1 chain of type IV collagen, a component of basal membrane. It is expressed mainly in the brain, muscles, kidneys and eyes. Different COL4A1 mutations have been reported in many patients who present a very wide spectrum of clini...

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Veröffentlicht in:	American journal of medical genetics. Part A 2015-04, Vol.167A (4), p.810-815
Hauptverfasser:	Decio, Alice, Tonduti, Davide, Pichiecchio, Anna, Vetro, Annalisa, Ciccone, Roberto, Limongelli, Ivan, Giorda, Roberto, Caffi, Lorella, Balottin, Umberto, Zuffardi, Orsetta, Orcesi, Simona
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - diagnostic imaging Abnormalities, Multiple - genetics Base Sequence cerebral calcification Cerebral Palsy - diagnosis Cerebral Palsy - genetics Child COL4A1 gene Collagen Type IV - genetics DNA Mutational Analysis Genetic Association Studies Humans infants leukoencephalopathy Male Mutation Radiography White Matter - abnormalities White Matter - diagnostic imaging
Online-Zugang:	Volltext
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