A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis

Human Genetics

Volumn 121, Issue 3-4, 2007, Pages 319-325

  Ali, Ghazanfar ^a   Chishti, Muhammad Salman ^a   Raza, Syed Irfan ^a   John, Peter ^a   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

Author keywords

[No Author keywords available]

Indexed keywords

LIPASE H; PHOSPHATIDATE PHOSPHATASE; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BASE PAIRING; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME MAP; ENZYME ACTIVITY; EXON; FAMILY STUDY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE IDENTIFICATION; GENETIC CODE; GENETIC SCREENING; GROWTH REGULATION; HAIR GROWTH; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOTRICHOSIS; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PAKISTAN; PHENOTYPE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; STOP CODON;

CHROMOSOMES, HUMAN, PAIR 3; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPOTRICHOSIS; LINKAGE (GENETICS); LIPASE; MALE; PAKISTAN; PEDIGREE; SEQUENCE DELETION;

EID: 34147144132     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-007-0344-0     Document Type: Article

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