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

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 810-815

  Decio, Alice ^a   Tonduti, Davide ^a   Pichiecchio, Anna ^b   Vetro, Annalisa ^c   Ciccone, Roberto ^a,b   Limongelli, Ivan ^b   Giorda, Roberto ^d   Caffi, Lorella ^e   Balottin, Umberto ^a,b   Zuffardi, Orsetta ^a   Orcesi, Simona ^b  

^a UNIVERSITY OF PAVIA   (Italy)

^b C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^c FONDAZIONE IRCCS POLICLINICO SAN MATTEO   (Italy)

^d SCIENTIFIC INSTITUTE   (Italy)

^e Azienda Ospedaliera Papa Giovanni XXIII   (Italy)

Author keywords

Cerebral calcification; COL4A1 gene; Infants; Leukoencephalopathy

Indexed keywords

CREATINE KINASE; COL4A1 PROTEIN, HUMAN; COLLAGEN TYPE 4;

ARTICLE; BRAIN CALCIFICATION; BRAIN RADIOGRAPHY; CASE REPORT; CHILD; COL4A1 GENE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CATARACT; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; ELECTROENCEPHALOGRAPHY; EYE EXAMINATION; EYE MOVEMENT DISORDER; FOCAL EPILEPSY; FOLLOW UP; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEMATURIA; HUMAN; IMAGE ANALYSIS; INHERITANCE; INTRON; LENS IMPLANT; MALE; MICROCEPHALY; MUSCLE CRAMP; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; NEXT GENERATION SEQUENCING; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PERINATAL PERIOD; PRESCHOOL CHILD; PRIORITY JOURNAL; WHITE MATTER LESION; CEREBRAL PALSY; CONGENITAL MALFORMATION; GENETICS; MULTIPLE MALFORMATION SYNDROME; MUTATION; NUCLEOTIDE SEQUENCE; RADIOGRAPHY; WHITE MATTER;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CEREBRAL PALSY; CHILD; COLLAGEN TYPE IV; DNA MUTATIONAL ANALYSIS; GENETIC ASSOCIATION STUDIES; HUMANS; MALE; MUTATION; WHITE MATTER;

EID: 84925695126     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36907     Document Type: Article

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