Loss of function mutations in SIL1 cause Marinesco-Sjögren syndrome.

Clinical genetics

Volumn 69, Issue 5, 2006, Pages 399-400

  Van Raamsdonk, J M ^a  

^a UNIVERSITY OF BRITISH COLUMBIA   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

GUANINE NUCLEOTIDE EXCHANGE FACTOR; SIL1 PROTEIN, HUMAN;

ALLELE; ANIMAL; ARTICLE; GENETICS; HUMAN; MOUSE; PHYSIOLOGY; PROTEIN FOLDING; RNA SPLICING; SPINOCEREBELLAR DEGENERATION;

ALLELES; ANIMALS; GUANINE NUCLEOTIDE EXCHANGE FACTORS; HUMANS; MICE; PROTEIN FOLDING; RNA SPLICING; SPINOCEREBELLAR DEGENERATIONS;

EID: 33745498122     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2006.00595a.x     Document Type: Article

References (0)