Novel B4GALNT1 mutations in a complicated form of hereditary spastic paraplegia

Clinical Genetics

Volumn 86, Issue 5, 2014, Pages 500-501

  Wakil, S M ^a   Monies, D M ^a   Ramzan, K ^a   Hagos, S ^a   Bastaki, L ^b   Meyer, B F ^a   Bohlega, S ^a  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b Kuwait Medical Genetics Centre   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; BETA-1,4-N-ACETYL-GALACTOSAMINYL TRANSFERASE 1, HUMAN; N ACETYLGALACTOSAMINYLTRANSFERASE;

ADULT; AUTISM; AUTOMUTILATION; B4GALNT1 GENE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DYSARTHRIA; GENE; GENE IDENTIFICATION; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; LETTER; MOBILIZATION; MUTATIONAL ANALYSIS; ONSET AGE; PARANOIA; SOCIAL PHOBIA; SPASTICITY; TREMOR; WHOLE EXOME SEQUENCING; ADOLESCENT; AGED; CASE REPORT; CHILD; EXOME; FAMILY; GENETICS; HOMOZYGOTE; MIDDLE AGED; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD;

ADOLESCENT; ADULT; AGED; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXOME; FAMILY; HOMOZYGOTE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; N-ACETYLGALACTOSAMINYLTRANSFERASES; SPASTIC PARAPLEGIA, HEREDITARY;

EID: 84911958050     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12312     Document Type: Letter

References (5)

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5. Boukhris A, Schule R, Loureiro JL et al. Alteration of ganglioside biosynthesis for complex hereditary spastic paraplegia. Am J Hum Genet 2013: 93: 118-123.