Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: A common theme emerging

Neurogenetics

Volumn 10, Issue 4, 2009, Pages 307-311

  Aldahmesh, M A ^a   Al Hassnan, Z N ^a,b   Aldosari, M ^a   Alkuraya, F S ^a,b,c  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

Late infantile NCL; Missense; Retinitis pigmentosa like; Seizures; Turkish variant

Indexed keywords

CARRIER PROTEIN; MFSD8 PROTEIN, HUMAN;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMAL; ARTICLE; CHILD; FEMALE; GENETIC LINKAGE; GENETICS; GENOTYPE; HAPLOTYPE; HUMAN; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NEURONAL CEROID LIPOFUSCINOSIS; NUCLEOTIDE SEQUENCE; PEDIGREE; PHENOTYPE; SAUDI ARABIA; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; CHILD; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC LINKAGE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; MEMBRANE TRANSPORT PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; NEURONAL CEROID-LIPOFUSCINOSES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; SAUDI ARABIA; SEQUENCE ALIGNMENT;

EID: 79451473175     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-009-0185-1     Document Type: Article

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