A novel mutation in a large family causes a unique phenotype of Mucolipidosis IV

Gene

Volumn 526, Issue 2, 2013, Pages 464-466

  AlBakheet, AlBandary ^a   Qari, Aliya ^a   Colak, Dilek ^a   Rasheed, Anas ^a   Kaya, Namik ^a   Al Sayed, Moeenaldeen ^a  

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

Author keywords

Gastrin; MCOLN1; ML IV; Novel p.Y436C

Indexed keywords

GASTRIN;

AMINO ACID BLOOD LEVEL; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 19P; CODON; CONSANGUINEOUS MARRIAGE; CORPUS CALLOSUM; DISEASE COURSE; EXON; FACIES; FAMILY HISTORY; GASTRIN BLOOD LEVEL; HOMOZYGOSITY; HUMAN; HURLER SYNDROME; HYDROPHOBICITY; LANGUAGE DEVELOPMENT; LINKAGE ANALYSIS; MALE; MUCOLIPIDOSIS; MUCOLIPIDOSIS TYPE 4; MUTATION; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOPENIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; WHITE MATTER;

DEOXYRIBONUCLEIC ACID; DNA; GASTRIN; HGMD; HUMAN GENE AND MUTATION DATABASE; INTERVENING SEQUENCE INTRON; IVS; KFSHRC; KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER; LOD; LOGARITHM OF ODDS; MAGNETIC RESONANCE IMAGING; MCOLN1; ML IV; MRI; MUCOLIPIDOSIS TYPE IV; MUCOLIPIN 1 GENE; NOVEL P.Y436C; POLYMORPHISM PHENOTYPING; POLYPHEN; RAC; RESEARCH ADVISORY COUNCIL; SIFT; SORTS INTOLERANT FROM TOLERANT;

BRAIN; CHILD; CONSANGUINITY; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MUCOLIPIDOSES; MUTATION; PEDIGREE; PHENOTYPE;

EID: 84880740812     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2013.04.076     Document Type: Article

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