P gene mutations in patients with oculocutaneous albinism and findings suggestive of Hermansky-Pudlak syndrome.

Journal of medical genetics

Volumn 41, Issue 6, 2004, Pages

  Garrison, N A ^a   Yi, Z ^a   Cohen Barak, O ^a   Huizing, M ^a   Hartnell, L M ^a   Gahl, W A ^a   Brilliant, M H ^a  

^a UNIVERSITY OF ARIZONA COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MONOPHENOL MONOOXYGENASE;

ADULT; ALLELE; ARTICLE; CASE REPORT; CHEMISTRY; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; INFANT; MALE; MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; PATHOLOGY; PRESCHOOL CHILD;

ADULT; ALBINISM, OCULOCUTANEOUS; ALLELES; CHILD, PRESCHOOL; DNA; DNA MUTATIONAL ANALYSIS; FEMALE; HERMANSKI-PUDLAK SYNDROME; HUMANS; INFANT; MALE; MONOPHENOL MONOOXYGENASE; MUTATION;

EID: 19444369991     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.014902     Document Type: Article

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