Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family

Diagnostic Pathology

Volumn 8, Issue 1, 2013, Pages

  Rahman, Obaid Ur ^a   Khawar, Nadeem ^b   Khan, Muhammad Aman ^c   Ahmed, Jawad ^a   Khattak, Kamran ^d   Al Aama, Jumana Yousuf ^e   Naeem, Muhammad ^c   Jelani, Musharraf ^a,e  

^a KHYBER MEDICAL UNIVERSITY   (Pakistan)

^b KHYBER TEACHING HOSPITAL   (Pakistan)

^c QUAID I AZAM UNIVERSITY   (Pakistan)

^d Departments of Cardiology   (Pakistan)

^e KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

Author keywords

BSCL2; Congenital generalized lipodystrophy; Deletion mutation; Pakistani population

Indexed keywords

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

ACANTHOSIS NIGRICANS; ARTICLE; CONGENITAL GENERALIZED LIPODYSTROPHY; EXON; FEMALE; GENE DELETION; GENETIC SCREENING; GENETICS; HUMAN; MALE; METHODOLOGY; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE; PHENOTYPE; STOP CODON;

ACANTHOSIS NIGRICANS; BASE SEQUENCE; CODON, NONSENSE; EXONS; FEMALE; GENETIC TESTING; GTP-BINDING PROTEIN GAMMA SUBUNITS; HUMANS; LIPODYSTROPHY, CONGENITAL GENERALIZED; MALE; PAKISTAN; PEDIGREE; PHENOTYPE; SEQUENCE DELETION;

EID: 84877140728     PISSN: None     EISSN: 17461596     Source Type: Journal    
DOI: 10.1186/1746-1596-8-78     Document Type: Article

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