Molecular pathogenesis of a disease: Structural consequences of aspartylglucosaminuria mutations

Human Molecular Genetics

Volumn 10, Issue 9, 2001, Pages 983-995

  Saarela, Jani ^a,b   Laine, Minna ^a,b   Oinonen, Carita ^c   Von Schantz, Carina ^a,b   Jalanko, Anu ^a,b   Rouvinen, Juha ^c   Peltonen, Leena ^a,b,d  

^a UNIVERSITY OF HELSINKI   (Finland)

^b NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^c UNIVERSITY OF EASTERN FINLAND   (Finland)

^d UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; DISULFIDE; N4 (BETA N ACETYLGLUCOSAMINYL)ASPARAGINASE; POLYPEPTIDE; SOMATOMEDIN B RECEPTOR;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; ASPARTYLGLYCOSAMINURIA; CONTROLLED STUDY; DIMERIZATION; ENDOPLASMIC RETICULUM; ENZYME ACTIVE SITE; ENZYME ACTIVITY; GENE MUTATION; HUMAN; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN STABILITY; PROTEIN STRUCTURE;

EID: 0035871210     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.9.983     Document Type: Article

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