Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene

Journal of Inherited Metabolic Disease

Volumn 31, Issue SUPPL. 2, 2008, Pages

  Shirwalkar, H U ^a   Patel, Z M ^b   Magre, J ^c   Hilbert, P ^d   Van Maldergem, L ^e   Mukhopadhyay, R R ^f   Maitra, A ^a  

^a NATIONAL INSTITUTE FOR RESEARCH IN REPRODUCTIVE HEALTH   (India)

^b Genetic Research Centre India   (India)

^c INSERM   (France)

^d INSTITUTE OF PATHOLOGY AND GENETICS   (Belgium)

^e UNIVERSITY OF LIÈGE   (Belgium)

^f BHABHA ATOMIC RESEARCH CENTRE   (India)

Author keywords

[No Author keywords available]

Indexed keywords

BSCL2 PROTEIN, HUMAN; GUANINE NUCLEOTIDE BINDING PROTEIN GAMMA SUBUNIT;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; CHILD DEVELOPMENT; CONGENITAL GENERALIZED LIPODYSTROPHY; DISEASE COURSE; EXON; FATALITY; FEMALE; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; HOMOZYGOTE; HUMAN; INDIA; INFANT; INTELLIGENCE; KIDNEY FAILURE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PSYCHOLOGICAL ASPECT;

ADOLESCENT; ADULT; CHILD; CHILD DEVELOPMENT; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; EXONS; FATAL OUTCOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GTP-BINDING PROTEIN GAMMA SUBUNITS; HOMOZYGOTE; HUMANS; INDIA; INFANT; INTELLIGENCE; LIPODYSTROPHY, CONGENITAL GENERALIZED; PHENOTYPE; RENAL INSUFFICIENCY; SEQUENCE DELETION; YOUNG ADULT;

EID: 84855596609     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-008-0899-5     Document Type: Article

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