Mutation Spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

Human Mutation

Volumn 34, Issue 5, 2013, Pages 686-696

  Handley, Mark T ^a   Morris Rosendahl, Deborah J ^b,aa,ac   Brown, Stephen ^a   Macdonald, Fiona ^c   Hardy, Carol ^c   Bem, Danai ^d   Carpanini, Sarah M ^a   Borck, Guntram ^e   Martorell, Loreto ^f   Izzi, Claudia ^g   Faravelli, Francesca ^h   Accorsi, Patrizia ⁱ   Pinelli, Lorenzo ⁱ   Basel Vanagaite, Lina ^j,k   Peretz, Gabriela ^j   Abdel Salam, Ghada M H ^l   Zaki, Maha S ^l   Jansen, Anna ^m   Mowat, David ⁿ   Glass, Ian ^o   Stewart, Helen ^p   Mancini, Grazia ^q   Lederer, Damien ^r   Roscioli, Tony ^s,t   Giuliano, Fabienne ^u   Plomp, Astrid S ^v   Rolfs, Arndt ^w,x   Graham, John M ^y   Seemanova, Eva ^z   Poo, Pilar ^f   García Cazorla, Àngels ^f   Edery, Patrick ^aa   Jackson, Ian J ^a   Maher, Eamonn R ^d,ab   Aligianis, Irene A ^a   more..

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF FREIBURG   (Germany)

^c BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^d UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^e UNIVERSITY OF ULM   (Germany)

^f HOSPITAL SANT JOAN DE DÉU   (Spain)

^g UNIVERSITY OF BRESCIA   (Italy)

^h GALLIERA HOSPITAL   (Italy)

ⁱ Department of Child Neurology and Psychiatry ^*  (Italy)

^j RABIN MEDICAL CENTER   (Israel)

^k TEL AVIV UNIVERSITY   (Israel)

^l NATIONAL RESEARCH CENTRE   (Egypt)

^m UZ Brussel   (Belgium)

ⁿ SYDNEY CHILDREN'S HOSPITAL   (Australia)

^o UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^p CHURCHILL HOSPITAL   (United Kingdom)

^q ERASMUS MEDICAL CENTER   (Netherlands)

^r INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^s RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^t UNIVERSITY OF NEW SOUTH WALES   (Australia)

^u CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^v ACADEMIC MEDICAL CENTER   (Netherlands)

^w UNIVERSITY OF ROSTOCK   (Germany)

^x CENTOGENE AG   (Germany)

^y Cedar Sinai Medical Center   (United States)

^z CHARLES UNIVERSITY   (Czech Republic)

^aa HOSPICES CIVILS DE LYON   (France)

^ab BIRMINGHAM CHILDREN S HOSPITAL NHS FOUNDATION TRUST   (United Kingdom)

^ac NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

more..

Author keywords

Martsolf; Micro; Rab; RAB18; RAB3GAP1; RAB3GAP2

Indexed keywords

GUANINE NUCLEOTIDE BINDING PROTEIN; RAB18 PROTEIN; RAB3GAP1 PROTEIN; RAB3GAP2 PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; DATA BASE; DEVELOPMENTAL DISORDER; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; INFANT; MAJOR CLINICAL STUDY; MALE; MARTSOLF SYNDROME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; WARBURG MICRO SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; CATARACT; CHILD; CHILD, PRESCHOOL; GENOTYPE; HUMANS; HYPOGONADISM; INFANT; INTELLECTUAL DISABILITY; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHENOTYPE; RAB GTP-BINDING PROTEINS; RAB3 GTP-BINDING PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84876322332     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22296     Document Type: Article

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