A novel loss-of-function mutation in the gns gene causes sanfilippo syndrome type D

Genetic Counseling

Volumn 20, Issue 2, 2009, Pages 133-139

  Elçioglu, Nursel H ^a   Pawlik, B ^b   Colak B ^a   Beck, M ^c   Wollnik, B ^b  

^a MARMARA UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

Author keywords

GNS gene; MPS type 3D; N acetylglucosamine 6 sulfatase; Sanfilippo D

Indexed keywords

N ACETYLGLUCOSAMINE 6 SULFATASE; RISPERIDONE;

ANGER; ARTICLE; ATTENTION DEFICIT DISORDER; BASE PAIRING; CASE REPORT; CHILD; GENE; GENE INSERTION; HEAD CIRCUMFERENCE; HOMOZYGOSITY; HUMAN; HYPERACTIVITY; LOSS OF FUNCTION MUTATION; MALE; MENTAL DEFICIENCY; MOTOR DEVELOPMENT; PATHOPHYSIOLOGY; PHENOTYPE; PHYSICAL EXAMINATION; SANFILIPPO SYNDROME; SCHOOL CHILD; SLEEP DISORDER;

ALLELES; BASE PAIRING; CHILD; CHROMOSOME ABERRATIONS; DEAFNESS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FRAMESHIFT MUTATION; GENES, RECESSIVE; GENETIC COUNSELING; HUMANS; MALE; MENTAL RETARDATION; MUCOPOLYSACCHARIDOSIS III; MUTAGENESIS, INSERTIONAL; PHENOTYPE; SULFATASES; TURKEY;

EID: 67650558957     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

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