Identification of novel mutations in HEXA gene in children affected with tay Sachs disease from India

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Mistri, Mehul ^a   Tamhankar, Parag M ^b   Sheth, Frenny ^a   Sanghavi, Daksha ^b   Kondurkar, Pratima ^b   Patil, Swapnil ^c   Idicula Thomas, Susan ^c   Gupta, Sarita ^d   Sheth, Jayesh ^a  

^a FRIGE Institute of Human Genetics   (India)

^b Genetic Research Centre India   (India)

^c NATIONAL INSTITUTE FOR RESEARCH IN REPRODUCTIVE HEALTH   (India)

^d M S UNIVERSITY OF BARODA   (India)

Author keywords

[No Author keywords available]

Indexed keywords

4 METHYLUMBELLIFERYL N ACETYL BETA DEXTRO GLUCOSAMINE; 4 METHYLUMBELLIFERYL N ACETYL BETA DEXTRO GLUCOSAMINE 6 SULPHATE; ADENINE; ARGININE; ASPARAGINE; ASPARTIC ACID; BETA N ACETYLHEXOSAMINIDASE; BETA N ACETYLHEXOSAMINIDASE A; CYTOSINE; GLUCOSAMINE DERIVATIVE; GLUTAMIC ACID; GLYCINE; GUANINE; LEUKOCYTE HEXOSAMINIDASE; LYSINE; PROLINE; THYMINE; TRYPTOPHAN; TYROSINE; UNCLASSIFIED DRUG; VALINE;

ARTICLE; CHERRY RED SPOT; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; COMPUTER MODEL; CONTROLLED STUDY; DISEASE EXACERBATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; ENZYME INACTIVATION; EXON; FAMILY STUDY; FEMALE; GENE; GENE IDENTIFICATION; GENE SEQUENCE; HETEROZYGOTE; HEXA GENE; HUMAN; INDIA; INFANT; INTRON; MACROCEPHALY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NERVE DEGENERATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PATIENT ASSESSMENT; RNA SPLICING; SEIZURE; SPASTICITY; STARTLE REFLEX; TAY SACHS DISEASE; THALAMUS;

BASE SEQUENCE; CHILD, PRESCHOOL; CONSANGUINITY; FAMILY; FOUNDER EFFECT; HAPLOTYPES; HEXOSAMINIDASE A; HUMANS; HYDROGEN BONDING; INDIA; INFANT; LIGANDS; MODELS, MOLECULAR; MUTATION; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN CONFORMATION; TAY-SACHS DISEASE;

EID: 84862502154     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0039122     Document Type: Article

References (29)

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