Identification of novel TYR and TYRP1 mutations in oculocutaneous albinism [2]

Clinical Genetics

Volumn 68, Issue 2, 2005, Pages 182-184

  Forshew, T ^b   Khaliq, S ^b   Tee, L ^b   Smith, U ^b   Johnson, C A ^b   Mehdi, S Q ^b   Maher, Eamonn R ^a  

^a UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; MONOPHENOL MONOOXYGENASE; TYROSINASE RELATED PROTEIN 1;

CLINICAL FEATURE; CONSANGUINITY; EXON; FAMILY HISTORY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC LINKAGE; GENOTYPE; HOMOZYGOSITY; HUMAN; LETTER; MUTATIONAL ANALYSIS; OCULOCUTANEOUS ALBINISM; PAKISTAN; PEDIGREE ANALYSIS; PHENOTYPE; PHOTOPHOBIA; PIGMENTATION; PRIORITY JOURNAL; VISUAL ACUITY; VISUAL IMPAIRMENT;

ALBINISM, OCULOCUTANEOUS; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MONOPHENOL MONOOXYGENASE; OXIDOREDUCTASES; PAKISTAN; PEDIGREE; PHENOTYPE;

EID: 22244443834     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2005.00460.x     Document Type: Letter

References (15)

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