CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

American Journal of Human Genetics

Volumn 96, Issue 2, 2015, Pages 245-257

  Wortmann, Saskia B ^a   Ziętkiewicz, Szymon ^b   Kousi, Maria ^c   Szklarczyk, Radek ^d   Haack, Tobias B ^e,f   Gersting, Søren W ^g   Muntau, Ania C ^h   Rakovic, Aleksandar ⁱ   Renkema, G Herma ^a   Rodenburg, Richard J ^a   Strom, Tim M ^e,f   Meitinger, Thomas ^e,f   Rubio Gozalbo, M Estela ^d   Chrusciel, Elzbieta ^b   Distelmaier, Felix ^j   Golzio, Christelle ^c   Jansen, Joop H ^a   Van Karnebeek, Clara ^k,l   Lillquist, Yolanda ^k   Lücke, Thomas ^m   Õunap, Katrin ⁿ   Zordania, Riina ⁿ   Yaplito Lee, Joy ^o   Van Bokhoven, Hans ^p   Spelbrink, Johannes N ^a,q   Vaz, Frédéric M ^r   Pras Raves, Mia ^r   Ploski, Rafal ^s   Pronicka, Ewa ^t   Klein, Christine ⁱ   Willemsen, Michel A A P ^a   De Brouwer, Arjan P M ^p   Prokisch, Holger ^e,f   Katsanis, Nicholas ^c   Wevers, Ron A ^a   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF GDA SK   (Poland)

^c DUKE UNIVERSITY MEDICAL CENTER   (United States)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^h UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

ⁱ UNIVERSITY OF LÜBECK   (Germany)

^j UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

^k BC CHILDREN S HOSPITAL   (Canada)

^l UNIVERSITY OF BRITISH COLUMBIA   (Canada)

^m RUHR UNIVERSITY BOCHUM   (Germany)

ⁿ TARTU UNIVERSITY HOSPITAL   (Estonia)

^o ROYAL CHILDREN'S HOSPITAL   (Australia)

^p RADBOUD UNIVERSITY   (Netherlands)

^q TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^r ACADEMIC MEDICAL CENTER   (Netherlands)

^s MEDICAL UNIVERSITY OF WARSAW   (Poland)

^t CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3 METHYLGLUTACONIC ACID; ADENOSINE TRIPHOSPHATASE; PROTEIN CLPB; ATP2A2 PROTEIN, HUMAN; CLPB PROTEIN, HUMAN; ENDOPEPTIDASE CLP; SARCOPLASMIC RETICULUM CALCIUM TRANSPORTING ADENOSINE TRIPHOSPHATASE;

3 METHYLGLUTACONIC ACIDURIA; ACIDURIA; ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; APOPTOSIS; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CATARACT; CLINICAL ARTICLE; EXOME; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; HUMAN; IN VITRO STUDY; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MOTOR DYSFUNCTION; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PHOSPHOLIPID METABOLISM; PRIORITY JOURNAL; PROTEIN FAMILY; PROTEIN PROTEIN INTERACTION; SEVERE CONGENITAL NEUTROPENIA; URINARY EXCRETION; ZEBRA FISH; ANIMAL; ATROPHY; BRAIN; DNA SEQUENCE; GENETICS; INBORN ERROR OF METABOLISM; METABOLISM; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; NEUTROPENIA; PATHOLOGY; SINGLE NUCLEOTIDE POLYMORPHISM;

DANIO RERIO;

ABNORMALITIES, MULTIPLE; ADENOSINE TRIPHOSPHATASES; ANIMALS; ATROPHY; BASE SEQUENCE; BRAIN; CATARACT; ENDOPEPTIDASE CLP; EXOME; HUMANS; INTELLECTUAL DISABILITY; METABOLISM, INBORN ERRORS; MOLECULAR SEQUENCE DATA; MOVEMENT DISORDERS; NEUTROPENIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; SEQUENCE ANALYSIS, DNA; ZEBRAFISH;

EID: 84925134566     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.013     Document Type: Article

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