RAB3GAP1, RAB3GAP2 and RAB18: Disease genes in Micro and Martsolf syndromes

Biochemical Society Transactions

Volumn 40, Issue 6, 2012, Pages 1394-1397

  Handley, Mark T ^a   Aligianis, Irene A ^a  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

Martsolf syndrome; Micro syndrome; Rab protein; Rab18; Rab3GAP1; Rab3GAP2

Indexed keywords

GUANINE NUCLEOTIDE DISSOCIATION INHIBITOR; INSULIN; ISOPRENALINE; NOTCH RECEPTOR;

AUTOSOMAL RECESSIVE DISORDER; BRAIN CELL; CATARACT EXTRACTION; CELL MIGRATION; CHROMATIN IMMUNOPRECIPITATION; CONFERENCE PAPER; CONGENITAL CATARACT; CORPUS CALLOSUM AGENESIS; ELECTRORETINOGRAM; ENDOPLASMIC RETICULUM; EVOKED VISUAL RESPONSE; FACE DYSMORPHIA; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GOLGI COMPLEX; HIPPOCAMPAL CA1 REGION; HUMAN; HYPOGONADISM; IMMUNE EVASION; INTELLECTUAL IMPAIRMENT; LIPOGENESIS; LIPOLYSIS; MARTSOLF SYNDROME; MICRO SYNDROME; MICROCEPHALY; MICROGYRIA; MICROPHTHALMIA; MISSENSE MUTATION; NEUROMUSCULAR SYNAPSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; RAB18 GENE; RAB3GAP1 GENE; RAB3GAP2 GENE; SECRETORY GRANULE; SEIZURE; SPASTICITY; VISUAL IMPAIRMENT;

ABNORMALITIES, MULTIPLE; ANIMALS; CATARACT; CORNEA; HUMANS; HYPOGONADISM; INTELLECTUAL DISABILITY; MICROCEPHALY; MUTATION; OPTIC ATROPHY; RAB GTP-BINDING PROTEINS; RAB3 GTP-BINDING PROTEINS;

EID: 84870203239     PISSN: 03005127     EISSN: 14708752     Source Type: Journal    
DOI: 10.1042/BST20120169     Document Type: Conference Paper

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