Novel missense mutations in lipase H (LIPH) gene causing autosomal recessive hypotrichosis (LAH2)

Journal of Dermatological Science

Volumn 54, Issue 1, 2009, Pages 12-16

  Naz, Gul ^a   Khan, Bushra ^a   Ali, Ghazanfar ^a   Azeem, Zahid ^a   Wali, Abdul ^a   Ansar, Muhammad ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

Hereditary hypotrichosis; LAH2; Lipase H; Missense mutations

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 3Q; CLINICAL FEATURE; CONSANGUINEOUS MARRIAGE; EXON; GENE; GENE LOCUS; GENE SEQUENCE; GENOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; LIPASE H GENE; MICROSATELLITE MARKER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

AMINO ACID SEQUENCE; BASE SEQUENCE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; HYPOTRICHOSIS; LIPASE; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ALIGNMENT;

EID: 60749087564     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2008.12.001     Document Type: Article

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