A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract

European Journal of Human Genetics

Volumn 16, Issue 2, 2008, Pages 261-264

  Ugur, Sibel Aylin ^a   Tolun, AslIhan ^a  

^a BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROTEIN DRCTNNB1A; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CLINICAL ARTICLE; CONGENITAL CATARACT; CONSANGUINITY; DIFFERENTIAL DIAGNOSIS; FAMILY STUDY; FEMALE; GENE DELETION; GENE MUTATION; GENOTYPE; HUMAN; HYPOMYELINATION AND CONGENITAL CATARACT; MALE; MUTATIONAL ANALYSIS; NEUROLOGIC EXAMINATION; NUCLEOTIDE SEQUENCE; ONSET AGE; PEDIGREE ANALYSIS; PERIPHERAL NEUROPATHY; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CATARACT; CHILD; CHILD, PRESCHOOL; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MEMBRANE PROTEINS; MYELIN SHEATH; PEDIGREE; SEQUENCE DELETION;

EID: 38349192870     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201935     Document Type: Article

References (2)

1. Zara F, Biancheri R, Brune C et al.: Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 2006; 38: 1111-1113.
2. Weber JL, Broman KW: Genotyping forPhuman whole-genome scans: past, presenty and future. Adv Genet 2001; 42: 77-96.