Hermansky-Pudlak syndrome type 4 (HPS-4): Clinical and molecular characteristics

Human Genetics

Volumn 113, Issue 1, 2003, Pages 10-17

  Anderson, Paul D ^a   Huizing, Marjan ^a   Claassen, David A ^a   White, James ^b   Gahl, William A ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; HPS4 PROTEIN, HUMAN; PROTEIN; RNA;

5' UNTRANSLATED REGION; ADOLESCENT; ADULT; ALLELE; ARTICLE; CHILD; CHROMOSOME; CHROMOSOME 22Q; CLINICAL ARTICLE; CLINICAL FEATURE; COLITIS; DISEASE CLASSIFICATION; EXON; FEMALE; GENE INSERTION; GENE MUTATION; GENETIC ORGANIZATION; GRANULOMATOSIS; HAIR; HETEROZYGOTE; HUMAN; HUMAN CELL; INTRON; LUNG FIBROSIS; MALE; MISSENSE MUTATION; MOLECULAR GENETICS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; OCULAR ALBINISM; OCULAR ALBINISM TYPE 4; PRIORITY JOURNAL; RNA SPLICING; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; SKIN PIGMENTATION; THROMBOCYTE; ALTERNATIVE RNA SPLICING; CHROMOSOME 22; CROHN DISEASE; GENETICS; HAIR COLOR; METABOLISM; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD;

INSERTION SEQUENCES;

ADOLESCENT; ADULT; ALTERNATIVE SPLICING; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 22; CROHN DISEASE; DNA MUTATIONAL ANALYSIS; FEMALE; HAIR COLOR; HERMANSKI-PUDLAK SYNDROME; HUMANS; MALE; MIDDLE AGED; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTEINS; PULMONARY FIBROSIS; RNA; RNA, MESSENGER; SKIN PIGMENTATION;

EID: 0037666799     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-003-0933-5     Document Type: Article

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