Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Jaworek, Thomas J ^a   Kausar, Tasleem ^a,b   Bell, Shannon M ^a   Tariq, Nabeela ^b   Maqsood, Muhammad Imran ^b   Sohail, Asma ^b   Ali, Muhmmmad ^b   Iqbal, Furhan ^b   Rasool, Shafqat ^c   Riazuddin, Saima ^a,d   Shaikh, Rehan S ^b   Ahmed, Zubair M ^a,b,d  

^a CINCINNATI CHILDREN S HOSPITAL RESEARCH FOUNDATION   (United States)

^b BAHAUDDIN ZAKARIYA UNIVERSITY   (Pakistan)

^c Nishter Hospital   (Pakistan)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Exon trapping; Hypopigmentation; Melanocytes; OCA2; Oculocutaneous Albinism; Pakistan; SLC24A5; SLC45A2; TYR; TYRP1

Indexed keywords

MONOPHENOL MONOOXYGENASE;

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL EVALUATION; COMPUTER MODEL; ENDOPLASMIC RETICULUM; EX VIVO STUDY; EXON; EYE COLOR; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HUMAN CELL; HYPOPIGMENTATION; MALE; MELANOCYTE; MOLECULAR GENETICS; NYSTAGMUS; OCULOCUTANEOUS ALBINISM; PAKISTAN; PHENOTYPE; PHOTOPHOBIA; PRESCHOOL CHILD; PROTEIN FUNCTION; SCHOOL CHILD; SYNDROME DELINEATION;

ADOLESCENT; ADULT; ALBINISM, OCULOCUTANEOUS; CELLS, CULTURED; CHILD; EXONS; FEMALE; FLUORESCENT DYES; HUMANS; MALE; MIDDLE AGED; PAKISTAN; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 84872143275     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-44     Document Type: Article

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