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2013, Perpetua reeks, ISBN 9789025370138, 189
Book
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2010, Volume 87, Issue 1, pp. 60 - 74
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 03/2017, Volume 114, Issue 13, pp. E2739 - E2747
textabstractMegacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is a congenital visceral myopathy characterized by severe dilation of the urinary... 
Genetics | Smooth muscle | Leiomodin | CRISPR-Cas9 | Myopathy | LIGHT-CHAIN KINASE | NEMALINE MYOPATHY | MEMBERS | CONTRACTILITY | myopathy | MULTIDISCIPLINARY SCIENCES | TROPOMODULIN | smooth muscle | LACKING | genetics | GENE | ACTA2 MUTATION | EXPRESSION | Physiological aspects | Genetic disorders | Health aspects | Muscle contraction | Biological Sciences | PNAS Plus
Journal Article
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 48
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 8, pp. 1751 - 1760
textabstractPurpose: Using exome sequencing, the underlying variants in many persons with autosomal recessive diseases remain undetected. We explored autosomal... 
deep-intronic variant | missing heritability | Stargardt disease | antisense oligonucleotide | ABCA4 | POPULATION | IN-VITRO | GENE | GENETICS & HEREDITY | MUTATIONS | REVEALS
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 02/2016, Volume 25, Issue 3, pp. 571 - 583
Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS) is a rare congenital disorder, in which heterozygous missense variants in the Enteric Smooth... 
SMOOTH-MUSCLE | MOLECULAR-DYNAMICS | CONTRACTILE | INVOLVEMENT | SEQUENCE | NICOTINIC ACETYLCHOLINE-RECEPTOR | FAMILIAL VISCERAL MYOPATHY | MUTATIONS | PSEUDOOBSTRUCTION | ASSOCIATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Muscle Contraction - genetics | Humans | Protein Multimerization | Actins - metabolism | Male | Intestines - metabolism | Mutation, Missense | Urinary Bladder - pathology | Colon - abnormalities | Actins - genetics | Young Adult | Intestinal Pseudo-Obstruction - metabolism | Fatal Outcome | Actins - chemistry | Female | Abnormalities, Multiple - genetics | Infant, Newborn | Gene Expression | Intestines - pathology | Urinary Bladder - metabolism | Colon - pathology | Intestinal Pseudo-Obstruction - pathology | Muscle, Smooth - metabolism | Colon - metabolism | Intestinal Pseudo-Obstruction - genetics | Molecular Dynamics Simulation | Urinary Bladder - abnormalities | Pedigree | Heterozygote | Muscle, Smooth - pathology | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical Biotechnology | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper | Medicinsk bioteknologi | Medical Biotechnology (with a focus on Cell Biology (including Stem Cell Biology), Molecular Biology, Microbiology, Biochemistry or Biopharmacy) | Medicinsk bioteknologi (med inriktning mot cellbiologi (inklusive stamcellsbiologi), molekylärbiologi, mikrobiologi, biokemi eller biofarmaci)
Journal Article
European journal of human genetics, ISSN 1018-4813, 2017, Volume 25, Issue 5, pp. 591 - 599
Journal Article
European journal of human genetics, ISSN 1018-4813, 2011, Volume 19, Issue 3, pp. 247 - 252
Journal Article
Journal Article